Zespół noonana
Leczenie

Zespół Noonana (NS) to wielonarządowa choroba genetyczna bez leczenia przyczynowego, wymagająca interdyscyplinarnego podejścia. Problemy kardiologiczne występują u 50-80% pacjentów i są głównym czynnikiem rokowniczym; zalecane są regularne badania EKG i echokardiografia co 5 lat. Leczenie wad serca obejmuje farmakoterapię (beta-blokery, disopyramid, blokery kanału wapniowego typu L) oraz interwencje chirurgiczne, np. balonowe poszerzenie zastawki płucnej lub operacje kardiochirurgiczne. Obiecujące wyniki daje stosowanie inhibitorów MEK, takich jak trametynib, który w badaniu na dwóch pacjentach z mutacją RIT1 odwrócił kardiomiopatię przerostową i poprawił funkcję serca po 3 miesiącach terapii, utrzymując efekt do 17 miesięcy. Niski wzrost dotyczy około 83% dzieci z NS; terapia rekombinowanym ludzkim hormonem wzrostu (rhGH), głównie somatropiną (Norditropin zatwierdzony przez FDA), poprawia wzrost o około +1,4 SDS, szczególnie przy wczesnym rozpoczęciu (około 4. roku życia). Terapia jest bezpieczna, nie powoduje istotnych działań niepożądanych, nie zwiększa ryzyka kardiologicznego ani nowotworowego, choć wymaga długoterminowej obserwacji.

Leczenie ogólne w zespole Noonana

Zespół Noonana (NS) nie ma obecnie leczenia przyczynowego, które mogłoby skorygować leżące u podstaw choroby zaburzenia genetyczne. Terapia koncentruje się na leczeniu objawowym i zapobieganiu powikłaniom. Wczesne rozpoznanie i rozpoczęcie leczenia zapewnia najlepsze wyniki12. Ze względu na wielonarządowy charakter choroby, pacjenci z NS wymagają skoordynowanego podejścia interdyscyplinarnego zespołu specjalistów, obejmującego genetyka, kardiologa, endokrynologa, neurologa, okulistę, audiologa i innych specjalistów w zależności od indywidualnych potrzeb34.

Chociaż dziecko z zespołem Noonana może początkowo wymagać intensywnej opieki medycznej i wsparcia, zapotrzebowanie na opiekę zwykle zmniejsza się wraz z wiekiem, ponieważ choroba ma tendencję do powodowania mniejszej liczby problemów w wieku dorosłym5. Większość osób z zespołem Noonana prowadzi normalne życie w dorosłości przy odpowiedniej opiece i poradnictwie6.

Leczenie problemów kardiologicznych

Problemy kardiologiczne występują u 50-80% pacjentów z zespołem Noonana i stanowią główny czynnik determinujący rokowanie7. Leczenie zależy od rodzaju i nasilenia wady serca8. Wszyscy pacjenci z NS powinni przejść pełną ocenę kardiologiczną obejmującą EKG i echokardiografię, a nawet osoby bez rozpoznanej wady serca powinny mieć wykonywane badania kontrolne co 5 lat9.

W przypadku łagodnych nieprawidłowości serca może wystarczyć staranne monitorowanie stanu pacjenta w trybie ambulatoryjnym10. Dla wielu typów wad serca stosuje się leczenie farmakologiczne. W przypadku kardiomiopatii przerostowej stosuje się beta-blokery (np. propranolol), disopyramid lub blokery kanału wapniowego typu L1112.

Jeśli występują problemy z zastawkami serca lub poważne wady strukturalne, może być konieczne leczenie chirurgiczne13. W przypadku zwężenia zastawki płucnej celem jest zmniejszenie pogrubienia zastawki i ułatwienie przepływu krwi z serca do płuc. Można to osiągnąć przez cewnikowanie serca (np. poszerzenie balonowe) lub, częściej, przez operację kardiochirurgiczną (operacja na otwartym sercu)14.

Nowe podejścia terapeutyczne w leczeniu kardiologicznym

Obiecujące wyniki przynoszą badania nad zastosowaniem inhibitorów MEK w leczeniu zaburzeń kardiologicznych w zespole Noonana. W nowatorskim badaniu wykazano, że trametynib (inhibitor MEK stosowany w leczeniu czerniaka) może odwrócić kardiomiopatię przerostową i niedrożność zastawkową u pacjentów z zespołem Noonana związanym z mutacją genu RIT11516.

U dwóch pacjentów leczonych trametynibem zaobserwowano dramatyczną poprawę stanu klinicznego i kardiologicznego już po trzech miesiącach leczenia. Przerost mięśnia sercowego uległ regresji u obu pacjentów, z utrzymującą się poprawą przez łącznie 17 miesięcy leczenia17. Jeden z pacjentów, który wymagał wentylacji, mógł zostać odłączony od respiratora po sześciu tygodniach leczenia18.

Jak stwierdził dr Gregor Andelfinger, jeden z badaczy: „Leczenie trametynibem jest pierwszym podejściem skierowanym specyficznie przeciwko molekularnej przyczynie RASopatii”19. Choć badanie było ograniczone do dwóch pacjentów, obiecujące wyniki sugerują, że inhibicja MEK zasługuje na dalsze badania jako opcja leczenia mechanistycznego dla pacjentów z RASopatiami20.

Leczenie zaburzeń wzrastania i terapia hormonem wzrostu

Niski wzrost dotyka około 83% dzieci z zespołem Noonana i stanowi jeden z głównych powodów konsultacji z lekarzem2122. W celu monitorowania wzrostu zaleca się regularne pomiary wzrostu: trzy razy w roku do 3. roku życia, a następnie raz w roku aż do osiągnięcia dorosłości23.

W przypadku stwierdzenia istotnego zahamowania wzrostu, może być rozważona terapia rekombinowanym ludzkim hormonem wzrostu (rhGH)24. Najczęściej stosowanym lekiem jest somatropina25. Norditropin jest jedynym hormonem wzrostu zatwierdzonym przez FDA do leczenia dzieci z niskim wzrostem związanym z zespołem Noonana26.

Skuteczność terapii hormonem wzrostu

Liczne badania potwierdziły, że terapia hormonem wzrostu przyspiesza tempo wzrastania i zwiększa ostateczny wzrost u pacjentów z zespołem Noonana2728:

  • Po czterech latach terapii hormonem wzrostu około 70% pacjentów z NS osiąga normalny wzrost odpowiedni dla ich wieku i płci29
  • Badania porównujące dane historyczne z referencjami dla zespołu Noonana wykazują poprawę średniego wzrostu od początku do wieku dorosłego o 2 SDS u mężczyzn i 1,4 SDS u kobiet leczonych hormonem wzrostu30
  • U pacjentów, którzy osiągnęli ostateczny wzrost, obserwuje się istotny przyrost wzrostu dzięki leczeniu GH, z średnim przyrostem około +1,4 SDS31

Wykazano, że wczesne rozpoczęcie (szczególnie w okresie przedpokwitaniowym) i długotrwałe stosowanie terapii GH ma pozytywny wpływ na ostateczny wzrost3233. Prawie wszystkie badania pokazują, że im wcześniej rozpocznie się terapię GH, tym lepsze są wyniki34.

Odpowiedni wiek rozpoczęcia terapii hormonem wzrostu to czwarty rok życia u większości dzieci, choć wyjątkowo niski wzrost może być powodem do wcześniejszego rozpoczęcia35. Nie zaleca się jednak odkładania terapii hormonem wzrostu, ponieważ lata przedpokwitaniowe są bardzo ważne dla wpływu na ostateczny wzrost36.

Bezpieczeństwo terapii hormonem wzrostu

Dotychczasowe doświadczenia z terapią hormonem wzrostu u dzieci z zespołem Noonana są stosunkowo uspokajające37. Żadne z opublikowanych badań nie zgłosiło poważnych działań niepożądanych terapii hormonem wzrostu u pacjentów z NS3839.

Dotychczasowe badania wykazały, że:

  • Poziomy glukozy we krwi pozostają w granicach normy podczas terapii rhGH40
  • Nie ma dowodów na zwiększenie grubości ściany komór serca – prospektywne badania rhGH trwające ponad 3 lata wykazały, że żadne dziecko z NS nie doświadczyło poważnych powikłań sercowych na podstawie echokardiografii41
  • Nieliczne badania, które zgłosiły niepożądane reakcje kardiologiczne po GH, dotyczyły mniej niż 1,6% wszystkich uczestników42
  • Ograniczone badania przeprowadzone na terapii GH w NS nie wykazały zwiększonego ryzyka nowotworów43

Biorąc pod uwagę niskie a priori ryzyko rozwoju nowotworów, nie zaleca się rutynowego nadzoru onkologicznego44. Jednak ze względu na potencjalne ryzyko należy prowadzić długoterminową obserwację po zakończeniu leczenia45.

Leczenie problemów rozwojowych i edukacyjnych

Dzieci z zespołem Noonana mogą doświadczać różnych problemów rozwojowych, w tym opóźnień rozwojowych, trudności w uczeniu się i problemów z mową. Wczesna interwencja jest kluczowa dla osiągnięcia optymalnych wyników4647.

W przypadku wczesnych opóźnień rozwojowych zaleca się programy stymulacji niemowląt48. W zależności od indywidualnych potrzeb dziecka, mogą być konieczne interwencje takie jak:

  • Fizjoterapia dla poprawy słabych mięśni i rozwoju motoryki dużej49
  • Terapia zajęciowa dla rozwoju motoryki małej50
  • Terapia logopedyczna w przypadku opóźnień rozwoju mowy5152

Wczesna terapia logopedyczna, rozpoczęta zanim pojawią się problemy, może złagodzić trudności z mową i językiem53. Jest to szczególnie ważne, ponieważ wiele dzieci będzie miało problemy z mową i językiem54.

Wsparcie edukacyjne

W wieku szkolnym dzieci z zespołem Noonana mogą wymagać specjalnego wsparcia edukacyjnego55. Większość osób z NS kwalifikuje się do specjalnych usług edukacyjnych, które zapewniają wsparcie w nauce56.

Zalecane podejścia obejmują:

  • Zindywidualizowane programy edukacyjne (IEP) dostosowane do potrzeb dziecka5758
  • Indywidualne lub małogrupowe nauczanie specjalne w celu rozwiązania problemów z nauką59
  • Różne udogodnienia w klasie w celu rozwiązania problemów fizycznych lub rozwojowych60

Dla osób z zespołem Noonana, które uczęszczają na studia lub inne instytucje pomaturalne (np. szkoły zawodowe), usługi takie jak programy korepetycji i udogodnienia akademickie powinny być dostępne za pośrednictwem programów usług dla osób niepełnosprawnych na ich uczelniach61.

Zaleca się regularne badania neuropsychologiczne oceniające funkcje poznawcze, adaptacyjne i psychologiczne, aby dostosować wsparcie potrzebne w szkole i karierze62.

Leczenie problemów hematologicznych

Skłonność do krwawień i łatwe powstawanie siniaków są częstymi objawami zespołu Noonana. Problemy te mają różne przyczyny i są leczone w zależności od ich etiologii63.

W ramach diagnostyki zaleca się wykonanie pełnej morfologii krwi w celu wykrycia problemów z układem hematologicznym64. Hematolog może być członkiem zespołu opieki zdrowotnej i może zalecić leki wspomagające krzepnięcie65.

W przypadku wywiadu łatwego powstawania siniaków lub problemów z krwawieniem, nie należy stosować aspiryny i produktów zawierających aspirynę66. W niektórych przypadkach lekarze mogą przepisać leki wspomagające krzepnięcie krwi67, takie jak desmopresyna, stosowana w leczeniu zaburzeń krwawienia w zespole Noonana poprzez promowanie krzepnięcia krwi68.

Ważne jest, aby informować personel medyczny o problemach z krwawieniem i siniakami przed jakimikolwiek zabiegami69. Osoby z zaburzeniami krzepnięcia powinny być pod opieką specjalisty hematologa70.

Leczenie problemów okulistycznych i audiologicznych

Problemy ze wzrokiem i słuchem są częste u osób z zespołem Noonana i wymagają regularnej oceny i odpowiedniego leczenia7172.

Opieka okulistyczna

Zaleca się przeprowadzanie badań okulistycznych co najmniej co dwa lata73. Regularne badania wzroku i okulary mogą rozwiązać problemy ze wzrokiem dotykające większość osób z zespołem Noonana74.

Większość problemów z oczami można leczyć za pomocą samych okularów75. W przypadku niektórych schorzeń, takich jak zaćma, może być konieczna operacja76.

Opieka audiologiczna

Zaleca się coroczne badania przesiewowe słuchu w dzieciństwie77. Regularne badania słuchu i aparaty słuchowe będą zalecane w razie potrzeby78.

Jeśli wydzielina w uchu (tzw. „ucho klejowe”) stanowi problem, można ją leczyć operacją polegającą na wprowadzeniu drenów (drenaż trąbki słuchowej)79.

Leczenie problemów moczowo-płciowych

U chłopców z zespołem Noonana częstym problemem jest wnętrostwo (niezstąpienie jąder). Jeśli jedno lub oba jądra nie przemieściły się do prawidłowej pozycji w ciągu pierwszych kilku miesięcy życia, zaleca się leczenie chirurgiczne80.

Standardowym leczeniem wnętrostwa jest zabieg chirurgiczny zwany orchidopeksją. Polega on na wykonaniu małego nacięcia w brzuchu lub pachwinie dziecka i przemieszczeniu jądra (jąder) do prawidłowej pozycji81. Zabieg ten powinien być wykonany, gdy dziecko ma około 1 roku, jeśli jądra nie zstąpiły, aby zmniejszyć ryzyko rozwoju raka jądra w dorosłości82.

W ramach diagnostyki obowiązkowe jest wykonanie USG nerek83.

Leczenie problemów limfatycznych

Obrzęk limfatyczny i inne problemy z układem limfatycznym mogą wystąpić w zespole Noonana w różny sposób i mogą, ale nie muszą, wymagać leczenia84.

Osoby z obrzękiem limfatycznym obwodowym powinny być kierowane do specjalistycznych klinik obrzęku limfatycznego i powiązanych szpitali85. Można zastosować odpowiednie środki wspomagające w leczeniu obrzęku limfatycznego, takie jak terapia uciskowa86.

W przełomowym badaniu naukowcy z Children’s Hospital of Philadelphia (CHOP) z powodzeniem zastosowali inhibitor MEK (trametynib) u pacjentki z ciężkim zaburzeniem limfatycznym związanym z zespołem Noonana, które doprowadziło do krwawienia z górnego odcinka przewodu pokarmowego i gromadzenia się płynu wokół płuc87.

W ciągu trzech miesięcy od rozpoczęcia stosowania leku parametry życiowe pacjentki ustabilizowały się. Krwawienie ustało, poziomy elektrolitów, hemoglobiny i albuminy wróciły do normy, a pacjentka zaczęła przybierać na wadze88.

Leczenie problemów odżywiania

Problemy z karmieniem są częste u niemowląt i małych dzieci z zespołem Noonana. Zaleca się konsultację w przypadku trudności z karmieniem lub nawracających wymiotów, z żółcią w wymiocinach lub bez, tak wcześnie, jak to możliwe, aby zapobiec niedożywieniu89.

Jeśli karmienie stanowi problem, dziecko może być karmione przez sondę nosowo-żołądkową (rurka wprowadzona do nosa, przez przełyk i do żołądka)90.

U dzieci z objawami zaburzeń wzrostu należy przeprowadzić podstawowe badania i w razie potrzeby skorygować stan odżywienia odpowiednimi metodami91.

Podsumowanie i zalecenia dotyczące dalszej obserwacji

Osoby z zespołem Noonana wymagają regularnych badań kontrolnych i długoterminowej opieki92. Zaleca się regularne badania kontrolne odpowiednio do wieku, z naciskiem na badania przesiewowe i testy w kierunku typowych problemów zdrowotnych93.

Kluczowe zalecenia dotyczące dalszej obserwacji obejmują:

  • Regularne badania kardiologiczne, nawet u pacjentów bez rozpoznanej wady serca (co 5 lat)94
  • Regularne pomiary wzrostu: trzy razy w roku do 3. roku życia, a następnie raz w roku aż do osiągnięcia dorosłości95
  • Badania okulistyczne co najmniej co dwa lata96
  • Coroczne badania przesiewowe słuchu w dzieciństwie97
  • Coroczne badania rozwojowe z pełnymi testami neuropsychologicznymi, jeśli wynik badania przesiewowego nie jest zadowalający98
  • Coroczne badanie klatki piersiowej i pleców99
  • Badanie jamy ustnej podczas każdej wizyty100

Regularną opiekę medyczną powinien koordynować interdyscyplinarny zespół specjalistów, a regularne wizyty kontrolne są niezbędne do monitorowania progresji choroby, wczesnego wykrywania możliwych powikłań i dostosowywania planu leczenia do zmieniających się potrzeb pacjenta101.

Chociaż nie ma ostatecznego leku na zespół Noonana, kompleksowe i skoordynowane podejście do leczenia może pomóc poprawić jakość życia i rokowanie pacjentów102.

Kolejne rozdziały

Zapraszamy do dalszego czytania naszego leksykonu.

Wybierz kolejny rozdział z menu poniżej, aby otworzyć nową podstronę kompedium wiedzy i uzyskać szczegółowe informację o leku, substancji lub chorobie.

  1. 09.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    Although there’s no cure for Noonan syndrome, treatments can help decrease its effects. The earlier a diagnosis is made and treatment begins, the greater the benefits. […] Treatment for Noonan syndrome depends on the symptoms and complications and how serious they are. Many of the health and physical issues are treated the same as they would be for anyone else. Given the many problems with this condition, a coordinated team approach is best. […] Recommended approaches may include: […] Certain drugs may treat some kinds of heart problems. If there’s a problem with the heart’s valves, surgery may be needed. The doctor also may recommend that heart function be looked at from time to time. […] A health care professional should measure height three times a year until age 3 and then once a year until adulthood. This will make sure your child is growing. To find out if there is a problem with nutrition, blood tests may be ordered. If your child’s growth hormone levels are not high enough, growth hormone therapy may be a treatment option.
  • #2
    https://www.nhs.uk/conditions/noonan-syndrome/
    There’s currently no single treatment for Noonan syndrome, but it’s often possible to successfully manage many aspects of the condition. […] For example, severe heart defects may need to be repaired with surgery, and growth hormone medicine may be used to help prevent restricted growth. […] Your child may need quite a lot of treatment and support to help manage the various problems they have. However, they’ll usually need much less care as they get older, because the condition tends to cause fewer problems in adulthood. […] Read more about treating Noonan syndrome.
  • #3 Noonan Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK532269/
    The diagnosis and management of Noonan syndrome require an interprofessional team that includes a geneticist, pediatrician, primary care provider, ENT surgeon, audiologist, ophthalmologist, and cardiologist. There is no cure for Noonan syndrome as it is a genetically inherited disease. Management of Noonan syndrome is targeted toward symptomatic improvement and supportive care. Interprofessional care is often needed; multiple organ systems are to be addressed. Hearing tests and ophthalmic exams are appropriate throughout childhood. In males with cryptorchidism, orchiopexy should be performed when the child is approximately 1 year old if the testes have not descended. This procedure is done to reduce the risk of developing testicular cancer in adulthood. For congenital heart defects, an echo and ECG should be obtained. Even in patients without a diagnosis of cardiac defects, a cardiac evaluation is needed every 5 years. Short stature can be evaluated for the treatment of growth hormone. Appropriate supportive measures can be used to target lymphedema.
  • #4 Noonan Syndrome: Diagnosis & Treatment | NewYork-Presbyterian
    https://www.nyp.org/pediatrics/noonan-syndrome/treatment
    There is no treatment to correct the underlying genetic changes that cause Noonan syndrome. Rather the symptoms and complications are treated much as they would be in others with similar health issues. Since Noonan syndrome can affect so many areas of the body, patients may rely on a team of specialists for care. […] Aspects of Noonan syndrome that typically receive treatment include: […] An endocrinologist will monitor a child’s growth rate and may recommend growth hormone therapy […] Surgery may be needed soon after birth or later to repair congenital heart problems. In other cases, medications are recommended. Heart monitoring by a cardiologist is a lifelong part of health care for many people with Noonan syndrome. […] A hematologist may be a healthcare team member and may recommend medication to help with clotting
  • #5
    https://www.nhs.uk/conditions/noonan-syndrome/
    There’s currently no single treatment for Noonan syndrome, but it’s often possible to successfully manage many aspects of the condition. […] For example, severe heart defects may need to be repaired with surgery, and growth hormone medicine may be used to help prevent restricted growth. […] Your child may need quite a lot of treatment and support to help manage the various problems they have. However, they’ll usually need much less care as they get older, because the condition tends to cause fewer problems in adulthood. […] Read more about treating Noonan syndrome.
  • #6 Noonan syndrome | Orphanet Journal of Rare Diseases | Full Text
    https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-4
    With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. […] Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. […] Physiotherapy and/or speech therapy should be offered if indicated. […] Growth hormone (GH) treatment in pharmacological doses can be used to accelerate growth during the first years of life. […] Growth hormone therapy if indicated. […] Growth hormone therapy (if indicated) until adult height is reached. […] The majority of children with NS will grow up and function normally in the adult world. However, they need special care and counselling. […] Offer extensive genetic counselling to the parents. […] Possibility of growth hormone therapy in very small NS children with partial growth hormone deficiency.
  • #7 Noonan syndrome – Symptoms, diagnosis and treatment | BMJ Best Practice US
    https://bestpractice.bmj.com/topics/en-us/1193
    Treatment focuses on the individual symptom, and may include surgery for undescended testes in boys, optimization of cardiac function, and growth hormone treatment for short stature. […] The majority of patients lead normal lives. Prognosis is largely dependent on the type and severity of cardiac disease, which may occur in 50% to 80% of cases.
  • #8
    https://www.nhs.uk/conditions/noonan-syndrome/treatment/
    There’s no single treatment for Noonan syndrome, but it’s possible to treat many aspects of the condition. […] The treatment your child needs will depend on the type of heart defect they have and how severe it is. […] Treatment with human growth hormone may be suggested. […] A medication called somatropin is most often used. […] Corrective surgery is usually recommended. […] A surgical procedure known as an orchidopexy is the usual treatment for undescended testicles. […] Find out about the treatment for some of the other problems that can affect people with Noonan syndrome.
  • #9 Noonan Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK532269/
    There is no cure for Noonan syndrome as it is a genetically inherited disease. Management of Noonan syndrome is targeted toward symptomatic improvement and supportive care. Interprofessional care is often needed; multiple organ systems are to be addressed. Hearing tests and ophthalmic exams are appropriate throughout childhood. In males with cryptorchidism, orchiopexy should be performed when the child is around 1 year old if the testes have not descended to reduce the risk of development of testicular cancer in adulthood. For congenital heart defects, an echo and ECG should be obtained. Even in patients without a diagnosis of cardiac defects, a cardiac evaluation is needed every 5 years. Short stature can be evaluated for the treatment of growth hormone. Appropriate supportive measures can be used to target lymphedema.
  • #10 Noonan syndrome | Better Health Channel
    https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/noonan-syndrome
    Currently there is no cure, but symptoms of Noonan syndrome can be medically managed. Your childs health care team will coordinate various management strategies for different symptoms. These can include cardiac monitoring for heart irregularities, medication for blood clotting, and speech and educational interventions for any learning difficulties they may experience. […] There is currently no cure for Noonan syndrome. Treatment and condition management aims to ease some of the associated issues. If your child has been diagnosed with Noonan syndrome their treatment may include: […] for a mild heart irregularity, it may be enough to carefully monitor your child on an outpatient basis […] surgical correction of any severe heart structural anomalies […] if feeding is a problem, your baby may be fed by nasogastric tube (a tube threaded into the nose, down the oesophagus and into the stomach)
  • #11 Novel insights in Noonan syndrome
    https://oatext.com/novel-insights-in-noonan-syndrome.php
    Monitoring of anomalies found in any system is a paediatricians responsibility. […] In 2010 Dyscerne, a European consortium, developed management guidelines for different age groups. […] They suggest that every infant with NS must be referred to dietary assessment, full cardiac evaluation and renal echographic evaluation; they also consider measures of weight, height and occipital circumference at birth and monthly in order to investigate short stature. […] As regards HCM in NS, medical therapy (beta-blockers, disopyramide or calcium channel blockers (L-type) is the usual initial treatment, while a determining factor for considering invasive treatment occurs with a 50mmHg or greater gradient trough the LV outflow tract. […] Other factors to consider include the presence of subaortic stenosis (accessory fibrous connective tissue), abnormal insertion off the mitral valve, anomalous papillary muscles, mitral leaflet length anomaly, and mitral chordal attachments, all of which may be present in Noonan syndrome patients.
  • #12 Noonan syndrome – Overview of Information and Clinical Research
    https://clinicaltrials.eu/disease/noonan-syndrome/
    Early intervention through educational support, tailored teaching strategies, and therapies such as speech and physical therapy can significantly improve outcomes. […] Regular eye exams and hearing screenings are recommended for children with Noonan syndrome. Glasses can often correct vision issues, while hearing aids may be necessary for auditory problems. […] In some cases, medications to promote blood clotting may be prescribed. […] Treatment may not always be necessary, but discussing options with a healthcare provider is important to determine the best course of action. […] A surgical procedure known as orchidopexy is typically recommended to correct this condition. Early intervention is crucial for the best outcomes. […] Regular follow-up care is essential for managing Noonan syndrome effectively. A coordinated team approach, involving various specialists, ensures comprehensive care tailored to the individual’s needs.
  • #13 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    Although there’s no cure for Noonan syndrome, treatments can help decrease its effects. The earlier a diagnosis is made and treatment begins, the greater the benefits. […] Treatment for Noonan syndrome depends on the symptoms and complications and how serious they are. Many of the health and physical issues are treated the same as they would be for anyone else. Given the many problems with this condition, a coordinated team approach is best. […] Recommended approaches may include: […] Certain drugs may treat some kinds of heart problems. If there’s a problem with the heart’s valves, surgery may be needed. The doctor also may recommend that heart function be looked at from time to time. […] A health care professional should measure height three times a year until age 3 and then once a year until adulthood. This will make sure your child is growing. To find out if there is a problem with nutrition, blood tests may be ordered. If your child’s growth hormone levels are not high enough, growth hormone therapy may be a treatment option.
  • #14 Noonan syndrome and congenital heart conditions
    https://www.aboutkidshealth.ca/noonan-syndrome-and-congenital-heart-conditions
    There is currently no single treatment for Noonan syndrome, but it is often possible to successfully manage several aspects of the condition. […] Patients with heart conditions may require a heart intervention or surgery, depending on the symptoms and severity of the condition. The treatment will depend on the specific heart defect. With pulmonary stenosis, the aim is to relieve the thickening of the valve and to make it easier for the blood to flow from the heart to the lungs. This can be achieved by a cardiac catheter (e.g. balloon dilation) or, more frequently, by cardiac surgery (open-heart surgery).
  • #15
    https://www.mountsinai.org/about/newsroom/2019/a-promising-new-treatment-for-infants-with-noonan-syndrome
    Noonan Syndrome is a rare genetic syndrome typically evident at birth and often linked to early onset severe heart disease. […] In a new study, researchers show that a MEK inhibitor called trametinib can reverse hypertrophic cardiomyopathy and valvular obstruction in patients with RIT1-associated NS. […] „The findings described in this report suggest that a life-threatening form of heart disease affecting young infants might be treatable, which, if true, would be unprecedented and so meaningful for the families whose lives this devastating problem touches,” said Bruce Gelb, MD, the director of the Mindich Child Health and Development Institute at the Icahn School of Medicine at Mount Sinai who was not involved in the study.
  • #16 A Promising New Treatment for Infants with Noonan Syndrome – Drug Discovery and Development
    https://www.drugdiscoverytrends.com/a-promising-new-treatment-for-infants-with-noonan-syndrome/
    Noonan Syndrome (NS) is a rare genetic syndrome typically evident at birth and often linked to early-onset severe heart disease. […] In a new study, researchers at Université de Montréal and CHU Sainte-Justine Research Center show that a MEK inhibitor called trametinib can reverse hypertrophic cardiomyopathy (HCM) and valvular obstruction in patients with RIT1-associated NS. […] “Up to this finding, our therapeutic options were limited to surgery, including heart transplant, and symptomatic relief with medication,” said the study’s author, Dr. Gregor Andelfinger, a pediatric cardiologist at CHU Sainte-Justine, a researcher at Sainte-Justine University Hospital Research Center in the fetomaternal and neonatal pathologies axis, and an associate research professor in the pediatrics department of Université de Montréal.
  • #17 Discover the promising new Noonan syndrome treatment
    https://www.healtheuropa.com/noonan-syndrome-treatment/91454/
    According to researchers at Universit de Montral and CHU Sainte-Justine Research Center, Canada, there may be a new Noonan syndrome treatment on the horizon. […] The new therapeutic option brings infants promising Noonan syndrome treatment. […] Published in the Journal of the American College of Cardiology, researchers show that a MEK inhibitor called trametinib can reverse hypertrophic cardiomyopathy (HCM) and valvular obstruction in patients with RIT1-associated NS. […] Trametinib treatment is the first approach specifically targeted to the molecular cause of RASopathies, adds Andelfinger. […] While our numbers are still very limited, we report the first patients in whom we were not only able to stabilise, but to reverse the disease of the heart. […] Infants less than six months old with Noonan syndrome, hypertrophic cardiomyopathy and congestive heart failure normally have a poor prognosis, with a one-year survival rate of 34%.
  • #18
    https://www.rttnews.com/2996650/cancer-drug-a-promising-new-treatment-for-noonan-syndrome.aspx
    Scientists at the Universit de Montral and CHU Sainte-Justine Research Cente are said to have made a discovery, which could be a promising treatment for patients with Noonan Syndrome. […] In the new study, the two patients were treated with Trametinib, a targeted therapy for advanced melanoma, sold under the brand name Mekinist. […] According to the researchers, there was a significant improvement in the clinical and cardiac status of the Noonan syndrome patients just three months after treatment. […] Hypertrophy regressed in both the patients, with sustained improvement over a total of 17 months of treatment. […] One of the patients, who required ventilation, could be taken off the ventilator after six weeks of treatment. […] Both patients showed better overall growth after treatment was started, said the researchers.
  • #19 Study finds promising new treatment for infants with Noonan Syndrome – Jump Start Your Heart, Inc.
    https://jumpstartyourheart.org/study-finds-promising-new-treatment-for-infants-with-noonan-syndrome/
    In a new study, researchers at Universit de Montral and CHU Sainte-Justine Research Center show that a MEK inhibitor called trametinib can reverse hypertrophic cardiomyopathy (HCM) and valvular obstruction in patients with RIT1-associated NS. […] Up to this finding, our therapeutic options were limited to surgery, including heart transplant, and symptomatic relief with medication, said the studys author, Dr. Gregor Andelfinger, a pediatric cardiologist at CHU Sainte-Justine. […] Trametinib treatment is the first approach specifically targeted to the molecular cause of RASopathies, said Dr. Andelfinger. […] In the new study, the Sainte Justine clinical teams used trametinib, an inhibitor targeted specifically against the activating nature of the mutations, to try to treat NS in two patients.
  • #20 Children with severe heart disease benefit from cancer medication – Innovative treatment reduces heart failure in children with Noonan syndrome – Radboudumc
    https://www.radboudumc.nl/en/news-items/2025/children-with-severe-heart-disease-benefit-from-cancer-medication
    Children with Noonan syndrome benefit from an innovative treatment when they suffer from severe RASopathy-associated hypertrophic cardiomyopathy, a disease which may lead to heart failure and death. […] A breakthrough occurred when international specialists discovered trametinib, a drug normally used for certain types of skin cancer. […] This targeted, innovative therapy can indeed help severely ill children, as shown by a retrospective study of 61 children. […] Moreover, their cardiac status improved. […] In many children, we see that within two to four weeks, their heart rate decreases, and their skin regains a healthy color. […] Further research is certainly needed, emphasize both Udink ten Cate and Draaisma. […] The fact that these results are promising is for sure.
  • #21 Growth Hormone Therapy and Noonan Syndrome | Noonan Syndrome Awareness Association
    https://noonansyndrome.com.au/growth-hormone-therapy-and-noonan-syndrome/
    Short stature affects 83% of children with Noonan Syndrome (NS). The use of Growth Hormone (GH) to treat short stature in NS is a controversial topic due to its conflicting results, cost, duration of treatment and safety concerns. […] There is a real need for more qualitative studies to be performed as there is not enough robust data to allow strong recommendations for the efficacy of GH therapy in children with NS. […] These concerns aside the summation of GH studies shows that individuals who undergo GH treatment gain 5-10 cm of height. […] Almost all studies show that the earlier GH therapy begins the better the results. […] However a 2012 study showed this waning effect can be eliminated by increasing the dose of GH with each successive year of treatment. […] None of the published studies have reported serious adverse effects of GH therapy.
  • #22 Frontiers | Etiology and Treatment of Growth Delay in Noonan Syndrome
    https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2021.691240/full
    Noonan syndrome is characterized by multiple phenotypic features, including growth retardation, which represents the main cause of consultation to the clinician. […] Treatment with recombinant human growth hormone (rhGH) has been used extensively to promote linear growth in these patients. […] Treatment with recombinant human growth hormone (rhGH) has been shown to accelerate growth in patients with NS, but the benefit of long-term therapy over adult height is still the subject of some debate. […] Most of the evidence regarding rhGH therapy in patients with NS originates from observational uncontrolled studies with relatively small numbers of subjects. […] Several short-term studies with less than one year of rhGH therapy have reported a transient increase in height velocity and height SDS in NS patients, as described for other clinical conditions characterized by short stature.
  • #23 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    Although there’s no cure for Noonan syndrome, treatments can help decrease its effects. The earlier a diagnosis is made and treatment begins, the greater the benefits. […] Treatment for Noonan syndrome depends on the symptoms and complications and how serious they are. Many of the health and physical issues are treated the same as they would be for anyone else. Given the many problems with this condition, a coordinated team approach is best. […] Recommended approaches may include: […] Certain drugs may treat some kinds of heart problems. If there’s a problem with the heart’s valves, surgery may be needed. The doctor also may recommend that heart function be looked at from time to time. […] A health care professional should measure height three times a year until age 3 and then once a year until adulthood. This will make sure your child is growing. To find out if there is a problem with nutrition, blood tests may be ordered. If your child’s growth hormone levels are not high enough, growth hormone therapy may be a treatment option.
  • #24
    https://www.nhs.uk/conditions/noonan-syndrome/treatment/
    There’s no single treatment for Noonan syndrome, but it’s possible to treat many aspects of the condition. […] The treatment your child needs will depend on the type of heart defect they have and how severe it is. […] Treatment with human growth hormone may be suggested. […] A medication called somatropin is most often used. […] Corrective surgery is usually recommended. […] A surgical procedure known as an orchidopexy is the usual treatment for undescended testicles. […] Find out about the treatment for some of the other problems that can affect people with Noonan syndrome.
  • #25
    https://www.nhs.uk/conditions/noonan-syndrome/treatment/
    There’s no single treatment for Noonan syndrome, but it’s possible to treat many aspects of the condition. […] The treatment your child needs will depend on the type of heart defect they have and how severe it is. […] Treatment with human growth hormone may be suggested. […] A medication called somatropin is most often used. […] Corrective surgery is usually recommended. […] A surgical procedure known as an orchidopexy is the usual treatment for undescended testicles. […] Find out about the treatment for some of the other problems that can affect people with Noonan syndrome.
  • #26 How Norditropin® Treats Noonan Syndrome | Norditropin® (somatropin) 10 mg injection
    https://www.norditropin.com/growth-disorder-treatment/noonan-syndrome.html
    Norditropin is the only growth hormone FDA approved as a treatment for children with short stature associated with Noonan syndrome. […] Norditropin is a prescription medicine that contains human growth hormone and is used to treat children who are short (in stature) and who have Noonan syndrome, Turner syndrome, or were born small (small for gestational age-SGA) and have not caught-up in growth by age 2 to 4 years.
  • #27 Growth, Endocrine Features, and Growth Hormone Treatment in Noonan Syndrome
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8999676/
    Noonan syndrome is a heterogeneous congenital disorder. […] To increase adult height, children with Noonan syndrome have been treated with human growth hormone since the 1990s. This seems to be beneficial in most of the children treated. […] To increase adult height, children with NS have been treated with growth hormone since the 1990s. This seems to be beneficial in most of the children treated. […] Based on this evolving evidence and two specific studies, short stature in NS is an approved indication for growth hormone therapy. […] Available evidence favors a significant effect of GH therapy on adult height for patients with NS without significant side effects. […] We believe growth hormone therapy should be discussed with all children with NS and their families. […] The appropriate age for starting growth hormone therapy is the age of four years in most children, although extremely short stature can be a reason to start earlier.
  • #28 Frontiers | Etiology and Treatment of Growth Delay in Noonan Syndrome
    https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2021.691240/full
    Noonan syndrome is characterized by multiple phenotypic features, including growth retardation, which represents the main cause of consultation to the clinician. […] Treatment with recombinant human growth hormone (rhGH) has been used extensively to promote linear growth in these patients. […] Treatment with recombinant human growth hormone (rhGH) has been shown to accelerate growth in patients with NS, but the benefit of long-term therapy over adult height is still the subject of some debate. […] Most of the evidence regarding rhGH therapy in patients with NS originates from observational uncontrolled studies with relatively small numbers of subjects. […] Several short-term studies with less than one year of rhGH therapy have reported a transient increase in height velocity and height SDS in NS patients, as described for other clinical conditions characterized by short stature.
  • #29 Growth hormone therapy in patients with Noonan syndrome
    https://e-apem.org/journal/view.php?number=752
    Growth hormone therapy has been carried out for Noonan syndrome (NS) patients over the last three decades, and multiple studies have reported acceleration of growth velocity (GV) and increase of height standard deviation score (SDS) in both prepubertal and pubertal NS patients upon GH therapy. […] After four years of GH therapy, ~70% of NS patients reached normal height considering their age and sex. […] Therefore, GH therapy is effective for improving height and GV of NS patients; nevertheless, concerns on possible malignancy remains, which necessitates continuous monitoring of NS patients receiving GH therapy. […] GH therapy in NS patients is effective for improving height and GV, enabling them to reach normal final height regardless of clinical severity and genotype. Early initiation (especially in the prepubertal period) and long duration of GH therapy show positive affect on final height.
  • #30 GH therapy in Noonan syndrome – facts and myths | ECE2008 | 10th European Congress of Endocrinology | Endocrine Abstracts
    https://www.endocrine-abstracts.org/ea/0016/ea0016s15.2
    GH therapy in Noonan syndrome – facts and myths […] A considerable number of children have today undergone treatment with GH. The majority of studies have shown similar results. There is a significant increase in growth velocity for the first and second year of GH treatment. […] Studies comparing historical data from Noonan references show an improvement of mean height from start to adult years of 2 SDS in males and 1.4 SDS in females treated with GH. […] The potential adverse events of GH treatment are cancer development, insulin resistance and hypertrophic cardiomyopatia. […] GH treatment in GH deficient or idiopatic short stature stimulates hypertrophic development of the heart and therefore it is not recommended to start GH treatment if serious heart failure in patients with NS. Moreover, treatment should be monitored regularly concerning IGF-I levels and cardiac function.
  • #31 Evaluation of Growth Characteristics and Final Height of Cases Diagnosed with Noonan Syndrome on Growth Hormone Treatment – Journal of Clinical Research in Pediatric Endocrinology
    https://www.jcrpe.org/articles/evaluation-of-growth-characteristics-and-final-height-of-cases-diagnosed-with-noonan-syndrome-on-growth-hormone-treatment/doi/jcrpe.galenos.2024.2024-7-3
    Proportional short stature is one of the most important features of Noonan syndrome (NS), and adult height often remains below the third percentile. […] GH treatment has been shown to be beneficial in NS, significantly improving height in respect to the results of short and long-term GH treatment. […] In patients with NS who reach their final height, a significant increase in height was observed with GH treatment. An increase of approximately +1.4 SDS may be achieved. GH treatment appears to be safe and effective in NS. […] This study presents national data on the efficacy and safety of GH in children and adolescents with NS. The findings confirm that GH treatment significantly increased final height in children and adolescents with NS, with a mean increase of approximately +1.4 standard deviation scores. GH treatment was demonstrated to be safe for patients with NS, with no significant side effects observed and stable cardiac findings in those with hypertrophic cardiomyopathy.
  • #32 Growth hormone therapy in patients with Noonan syndrome
    https://e-apem.org/journal/view.php?number=752
    Growth hormone therapy has been carried out for Noonan syndrome (NS) patients over the last three decades, and multiple studies have reported acceleration of growth velocity (GV) and increase of height standard deviation score (SDS) in both prepubertal and pubertal NS patients upon GH therapy. […] After four years of GH therapy, ~70% of NS patients reached normal height considering their age and sex. […] Therefore, GH therapy is effective for improving height and GV of NS patients; nevertheless, concerns on possible malignancy remains, which necessitates continuous monitoring of NS patients receiving GH therapy. […] GH therapy in NS patients is effective for improving height and GV, enabling them to reach normal final height regardless of clinical severity and genotype. Early initiation (especially in the prepubertal period) and long duration of GH therapy show positive affect on final height.
  • #33 Frontiers | Etiology and Treatment of Growth Delay in Noonan Syndrome
    https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2021.691240/full
    Adult or near-adult height data have been reported in four studies, and there is additional information from four patients documented by Municchi and co-workers in 1995. […] The KIGS program (sponsored by Pfizer) for NS patients from the United Kingdom, showed a mean increase in adult height of 0.8 SDS. […] Several authors have shown that early initiation and longer duration of therapy are associated with a greater height gain. […] The overall experience with rhGH therapy in most short children is relatively reassuring. […] We should state, however, that none of the published series with patients with NS has reported serious adverse effects during rhGH therapy. […] Despite the recent description of new genes associated with Noonan syndrome, and the availability of several murine models with pathogenic variants of the RAS/MAPK pathway, the molecular pathophysiology for the growth delay observed in these patients has not been elucidated.
  • #34 Growth Hormone Therapy and Noonan Syndrome | Noonan Syndrome Awareness Association
    https://noonansyndrome.com.au/growth-hormone-therapy-and-noonan-syndrome/
    Short stature affects 83% of children with Noonan Syndrome (NS). The use of Growth Hormone (GH) to treat short stature in NS is a controversial topic due to its conflicting results, cost, duration of treatment and safety concerns. […] There is a real need for more qualitative studies to be performed as there is not enough robust data to allow strong recommendations for the efficacy of GH therapy in children with NS. […] These concerns aside the summation of GH studies shows that individuals who undergo GH treatment gain 5-10 cm of height. […] Almost all studies show that the earlier GH therapy begins the better the results. […] However a 2012 study showed this waning effect can be eliminated by increasing the dose of GH with each successive year of treatment. […] None of the published studies have reported serious adverse effects of GH therapy.
  • #35 Growth, Endocrine Features, and Growth Hormone Treatment in Noonan Syndrome
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8999676/
    Noonan syndrome is a heterogeneous congenital disorder. […] To increase adult height, children with Noonan syndrome have been treated with human growth hormone since the 1990s. This seems to be beneficial in most of the children treated. […] To increase adult height, children with NS have been treated with growth hormone since the 1990s. This seems to be beneficial in most of the children treated. […] Based on this evolving evidence and two specific studies, short stature in NS is an approved indication for growth hormone therapy. […] Available evidence favors a significant effect of GH therapy on adult height for patients with NS without significant side effects. […] We believe growth hormone therapy should be discussed with all children with NS and their families. […] The appropriate age for starting growth hormone therapy is the age of four years in most children, although extremely short stature can be a reason to start earlier.
  • #36 Growth, Endocrine Features, and Growth Hormone Treatment in Noonan Syndrome
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8999676/
    Despite this, it is not recommended to postpone growth hormone therapy as prepubertal years are very important for the effect on final height. […] Given the low a priori chance of developing cancer, surveillance is not recommended. […] In summary, there is no evidence for an increased risk of developing cancer during growth hormone therapy in NS, but there is also no proof that this risk is absent. […] Growth hormone therapy improved final height within the normal range in most children with NS. There are no clear indications that growth hormone therapy is not safe for NS.
  • #37 Frontiers | Etiology and Treatment of Growth Delay in Noonan Syndrome
    https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2021.691240/full
    Adult or near-adult height data have been reported in four studies, and there is additional information from four patients documented by Municchi and co-workers in 1995. […] The KIGS program (sponsored by Pfizer) for NS patients from the United Kingdom, showed a mean increase in adult height of 0.8 SDS. […] Several authors have shown that early initiation and longer duration of therapy are associated with a greater height gain. […] The overall experience with rhGH therapy in most short children is relatively reassuring. […] We should state, however, that none of the published series with patients with NS has reported serious adverse effects during rhGH therapy. […] Despite the recent description of new genes associated with Noonan syndrome, and the availability of several murine models with pathogenic variants of the RAS/MAPK pathway, the molecular pathophysiology for the growth delay observed in these patients has not been elucidated.
  • #38 Growth, Endocrine Features, and Growth Hormone Treatment in Noonan Syndrome
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8999676/
    Despite this, it is not recommended to postpone growth hormone therapy as prepubertal years are very important for the effect on final height. […] Given the low a priori chance of developing cancer, surveillance is not recommended. […] In summary, there is no evidence for an increased risk of developing cancer during growth hormone therapy in NS, but there is also no proof that this risk is absent. […] Growth hormone therapy improved final height within the normal range in most children with NS. There are no clear indications that growth hormone therapy is not safe for NS.
  • #39 Growth Hormone Therapy and Noonan Syndrome | Noonan Syndrome Awareness Association
    https://noonansyndrome.com.au/growth-hormone-therapy-and-noonan-syndrome/
    Short stature affects 83% of children with Noonan Syndrome (NS). The use of Growth Hormone (GH) to treat short stature in NS is a controversial topic due to its conflicting results, cost, duration of treatment and safety concerns. […] There is a real need for more qualitative studies to be performed as there is not enough robust data to allow strong recommendations for the efficacy of GH therapy in children with NS. […] These concerns aside the summation of GH studies shows that individuals who undergo GH treatment gain 5-10 cm of height. […] Almost all studies show that the earlier GH therapy begins the better the results. […] However a 2012 study showed this waning effect can be eliminated by increasing the dose of GH with each successive year of treatment. […] None of the published studies have reported serious adverse effects of GH therapy.
  • #40 Novel insights in Noonan syndrome
    https://oatext.com/novel-insights-in-noonan-syndrome.php
    Several studies showed that blood glucose levels remain within normal ranges during rhGH therapy. […] As regards to cardiac involvement, there was no evidence of increasing ventricular wall thickness: a prospective rhGH trials of over 3 years showed that no children with NS experienced any serious complication of heart based on echocardiography. […] Currently, there are two non-interventional multicentre studies assessing the effectiveness and safety of somatropin (Norditropin, particularly): the NordiNet International Outcome Study (NordiNet IOS; NCT00960128) and the American Norditropin Studies: Web-Enabled Research Program (ANSWER; NCT01009905). […] In summary, there is no current indication to rhGH treatment in NS in European countries, even if it is widely used in clinical trials and practice all over Europe, given its safety outcomes.
  • #41 Novel insights in Noonan syndrome
    https://oatext.com/novel-insights-in-noonan-syndrome.php
    Several studies showed that blood glucose levels remain within normal ranges during rhGH therapy. […] As regards to cardiac involvement, there was no evidence of increasing ventricular wall thickness: a prospective rhGH trials of over 3 years showed that no children with NS experienced any serious complication of heart based on echocardiography. […] Currently, there are two non-interventional multicentre studies assessing the effectiveness and safety of somatropin (Norditropin, particularly): the NordiNet International Outcome Study (NordiNet IOS; NCT00960128) and the American Norditropin Studies: Web-Enabled Research Program (ANSWER; NCT01009905). […] In summary, there is no current indication to rhGH treatment in NS in European countries, even if it is widely used in clinical trials and practice all over Europe, given its safety outcomes.
  • #42 Growth Hormone Therapy and Noonan Syndrome | Noonan Syndrome Awareness Association
    https://noonansyndrome.com.au/growth-hormone-therapy-and-noonan-syndrome/
    The potential for GH therapy to increase the risk of malignancy creates a need for long term surveillance after treatment has ceased. […] Thankfully the limited studies performed on GH therapy in NS have not shown any increased cancer risk. […] The few studies that have reported adverse cardiac reactions post GH have been in less than 1.6% of all participants. […] GH therapy can improve height by as much as 10cm in some individuals but there is a waning effect of GH efficacy and for best results GH therapy should commence earlier rather than later. […] However there appears to be no significant adverse health effects of GH in the research completed so far and an increase in height of 10cm may greatly benefit an individuals self-esteem and appearance.
  • #43 Growth Hormone Therapy and Noonan Syndrome | Noonan Syndrome Awareness Association
    https://noonansyndrome.com.au/growth-hormone-therapy-and-noonan-syndrome/
    The potential for GH therapy to increase the risk of malignancy creates a need for long term surveillance after treatment has ceased. […] Thankfully the limited studies performed on GH therapy in NS have not shown any increased cancer risk. […] The few studies that have reported adverse cardiac reactions post GH have been in less than 1.6% of all participants. […] GH therapy can improve height by as much as 10cm in some individuals but there is a waning effect of GH efficacy and for best results GH therapy should commence earlier rather than later. […] However there appears to be no significant adverse health effects of GH in the research completed so far and an increase in height of 10cm may greatly benefit an individuals self-esteem and appearance.
  • #44 Growth, Endocrine Features, and Growth Hormone Treatment in Noonan Syndrome
    https://pmc.ncbi.nlm.nih.gov/articles/PMC8999676/
    Despite this, it is not recommended to postpone growth hormone therapy as prepubertal years are very important for the effect on final height. […] Given the low a priori chance of developing cancer, surveillance is not recommended. […] In summary, there is no evidence for an increased risk of developing cancer during growth hormone therapy in NS, but there is also no proof that this risk is absent. […] Growth hormone therapy improved final height within the normal range in most children with NS. There are no clear indications that growth hormone therapy is not safe for NS.
  • #45 Growth Hormone Therapy and Noonan Syndrome | Noonan Syndrome Awareness Association
    https://noonansyndrome.com.au/growth-hormone-therapy-and-noonan-syndrome/
    The potential for GH therapy to increase the risk of malignancy creates a need for long term surveillance after treatment has ceased. […] Thankfully the limited studies performed on GH therapy in NS have not shown any increased cancer risk. […] The few studies that have reported adverse cardiac reactions post GH have been in less than 1.6% of all participants. […] GH therapy can improve height by as much as 10cm in some individuals but there is a waning effect of GH efficacy and for best results GH therapy should commence earlier rather than later. […] However there appears to be no significant adverse health effects of GH in the research completed so far and an increase in height of 10cm may greatly benefit an individuals self-esteem and appearance.
  • #46 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    For early childhood developmental delays, ask your doctor or health care professional about infant stimulation programs. Physical and speech therapies may be needed. In some cases, special education or teaching strategies tailored to your child’s needs may be appropriate. […] Eye exams are recommended at least every two years. Glasses alone can treat most eye issues. Surgery may be needed for some conditions, such as cataracts. Hearing screenings are recommended yearly during childhood. […] If there’s a history of easy bruising or bleeding problems, do not use aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help blood clot. Let health care professionals know about issues with bleeding and bruising before any procedures. […] Buildup of fluid in the body may or may not need treatment. Talk with your doctor or health care team about this. They may suggest certain steps to take.
  • #47 Noonan Syndrome: Diagnosis & Treatment | NewYork-Presbyterian
    https://www.nyp.org/pediatrics/noonan-syndrome/treatment
    Regular eye exams and glasses can address the vision issues affecting most people with Noonan syndrome […] Males may need surgery if one or both testicles have not moved into position during the first year of life […] Specialists including occupational, physical, and speech therapists work with children with Noonan syndrome. Other support for issues that affect learning can help school-age children.
  • #48 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    For early childhood developmental delays, ask your doctor or health care professional about infant stimulation programs. Physical and speech therapies may be needed. In some cases, special education or teaching strategies tailored to your child’s needs may be appropriate. […] Eye exams are recommended at least every two years. Glasses alone can treat most eye issues. Surgery may be needed for some conditions, such as cataracts. Hearing screenings are recommended yearly during childhood. […] If there’s a history of easy bruising or bleeding problems, do not use aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help blood clot. Let health care professionals know about issues with bleeding and bruising before any procedures. […] Buildup of fluid in the body may or may not need treatment. Talk with your doctor or health care team about this. They may suggest certain steps to take.
  • #49 Noonan syndrome | healthdirect
    https://www.healthdirect.gov.au/noonan-syndrome
    Noonan syndrome is a rare genetic condition present from birth. […] Treatment for Noonan syndrome focuses on managing symptoms and health complications. […] There is no cure for Noonan syndrome. Each person living with Noonan syndrome receives individualised treatment to help manage their symptoms and health complications. […] Some possible treatments include the following: Physiotherapy to treat weak muscles. Speech therapy helpful if there is a delay in speech development. Growth checks your child will have extra height, weight and growth checks and your doctor will prescribe growth hormone (GH) therapy if they need it. This will help them grow to normal height. Blood tests because some people with Noonan syndrome have problems with normal blood clotting, extra blood tests are needed after diagnosis, at 5 years old and before any procedure or surgery. […] Most children with Noonan syndrome go on to lead normal lives in adulthood. A child newly diagnosed with the disorder may need a number of treatments. They may also need regular tests to monitor their condition over time.
  • #50 Noonan syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Noonan_syndrome
    Educational customization such as an individualized education program plan is sometimes needed for school-aged children. […] Speech therapy if speech and articulation issues present. […] Physical therapy and occupational therapy for gross- and fine-motor delays. […] Periodic follow up and lifelong monitoring of abnormalities found in any system, especially the cardiovascular system, is recommended.
  • #51 Noonan syndrome | healthdirect
    https://www.healthdirect.gov.au/noonan-syndrome
    Noonan syndrome is a rare genetic condition present from birth. […] Treatment for Noonan syndrome focuses on managing symptoms and health complications. […] There is no cure for Noonan syndrome. Each person living with Noonan syndrome receives individualised treatment to help manage their symptoms and health complications. […] Some possible treatments include the following: Physiotherapy to treat weak muscles. Speech therapy helpful if there is a delay in speech development. Growth checks your child will have extra height, weight and growth checks and your doctor will prescribe growth hormone (GH) therapy if they need it. This will help them grow to normal height. Blood tests because some people with Noonan syndrome have problems with normal blood clotting, extra blood tests are needed after diagnosis, at 5 years old and before any procedure or surgery. […] Most children with Noonan syndrome go on to lead normal lives in adulthood. A child newly diagnosed with the disorder may need a number of treatments. They may also need regular tests to monitor their condition over time.
  • #52 Noonan Syndrome (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/noonan-syndrome.html
    There’s no cure for Noonan syndrome, but medical care can help with almost every symptom. […] Medicines and surgery can help heart problems. […] Medicines or blood transfusions can treat bleeding. […] Growth hormone or other medicine can help speed up slowed growth. […] Surgery can correct undescended testicles. […] Education programs can help a child who has trouble learning. […] Many children will have trouble with speech and language. Working with a speech therapist before problems start can make these problems milder. […] A team of doctors, nurses, therapists, and social workers provide care for a child with Noonan syndrome. […] Meeting with a genetic counselor can help families: learn what to expect, understand their chances of having another child with Noonan syndrome.
  • #53 Noonan Syndrome (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/noonan-syndrome.html
    There’s no cure for Noonan syndrome, but medical care can help with almost every symptom. […] Medicines and surgery can help heart problems. […] Medicines or blood transfusions can treat bleeding. […] Growth hormone or other medicine can help speed up slowed growth. […] Surgery can correct undescended testicles. […] Education programs can help a child who has trouble learning. […] Many children will have trouble with speech and language. Working with a speech therapist before problems start can make these problems milder. […] A team of doctors, nurses, therapists, and social workers provide care for a child with Noonan syndrome. […] Meeting with a genetic counselor can help families: learn what to expect, understand their chances of having another child with Noonan syndrome.
  • #54 Noonan Syndrome (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/noonan-syndrome.html
    There’s no cure for Noonan syndrome, but medical care can help with almost every symptom. […] Medicines and surgery can help heart problems. […] Medicines or blood transfusions can treat bleeding. […] Growth hormone or other medicine can help speed up slowed growth. […] Surgery can correct undescended testicles. […] Education programs can help a child who has trouble learning. […] Many children will have trouble with speech and language. Working with a speech therapist before problems start can make these problems milder. […] A team of doctors, nurses, therapists, and social workers provide care for a child with Noonan syndrome. […] Meeting with a genetic counselor can help families: learn what to expect, understand their chances of having another child with Noonan syndrome.
  • #55
    https://link.springer.com/article/10.1007/s40817-015-0005-5
    As more individuals are being recognized as having NS at a young age, there are increasing opportunities to intervene and create a more supportive learning environment. […] It is clear that there are myriad ways in which both physical health aspects of NS and neuropsychological deficits can impact academic functioning and attainment of educational goals. […] Most individuals with NS would be expected to qualify for special education services to provide support for their learning needs. […] In early development, a number of rehabilitation therapies may be needed to address developmental delays and support progress. […] During school-aged years, individualized or small-group special education instruction may be needed to address learning difficulties, depending on the needs of the individual child.
  • #56
    https://link.springer.com/article/10.1007/s40817-015-0005-5
    As more individuals are being recognized as having NS at a young age, there are increasing opportunities to intervene and create a more supportive learning environment. […] It is clear that there are myriad ways in which both physical health aspects of NS and neuropsychological deficits can impact academic functioning and attainment of educational goals. […] Most individuals with NS would be expected to qualify for special education services to provide support for their learning needs. […] In early development, a number of rehabilitation therapies may be needed to address developmental delays and support progress. […] During school-aged years, individualized or small-group special education instruction may be needed to address learning difficulties, depending on the needs of the individual child.
  • #57 Noonan Syndrome | Lurie Children’s
    https://www.luriechildrens.org/en/specialties-conditions/noonan-syndrome/
    There is no single treatment for Noonan syndrome. Treatment plans are created by a healthcare team with input from the patient and their family. […] Early intervention programs are a useful support resource to help address the developmental differences often seen in children with Noonan syndrome. In some cases, children with Noonan syndrome may need additional support in school and benefit from an individualized education program (IEP). […] Some people with Noonan syndrome have bleeding problems. These problems have a variety of causes and are treated according to their cause. Additionally, delayed or reduced growth is often treated with growth hormone therapy which can help increase the rate of growth for a child with Noonan syndrome. […] Our team works closely with researchers who study RASopathies, like Noonan syndrome. Thus, we are informed of cutting-edge technology and treatments that may benefit the children in our care.
  • #58 Noonan syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Noonan_syndrome
    Educational customization such as an individualized education program plan is sometimes needed for school-aged children. […] Speech therapy if speech and articulation issues present. […] Physical therapy and occupational therapy for gross- and fine-motor delays. […] Periodic follow up and lifelong monitoring of abnormalities found in any system, especially the cardiovascular system, is recommended.
  • #59
    https://link.springer.com/article/10.1007/s40817-015-0005-5
    As more individuals are being recognized as having NS at a young age, there are increasing opportunities to intervene and create a more supportive learning environment. […] It is clear that there are myriad ways in which both physical health aspects of NS and neuropsychological deficits can impact academic functioning and attainment of educational goals. […] Most individuals with NS would be expected to qualify for special education services to provide support for their learning needs. […] In early development, a number of rehabilitation therapies may be needed to address developmental delays and support progress. […] During school-aged years, individualized or small-group special education instruction may be needed to address learning difficulties, depending on the needs of the individual child.
  • #60
    https://link.springer.com/article/10.1007/s40817-015-0005-5
    A number of classroom accommodations may be useful to address physical or developmental issues. […] For individuals with NS who attend college or other post-secondary institutions (e.g., vocational or career schools), services such as tutoring programs and academic accommodations should be available through their colleges disability service programs. […] There are currently no published clinical trials to evaluate the effectiveness of pharmacological treatments for mental health issues in NS. […] However, preliminary research on other RASopathies suggests several avenues for intervention. […] With the support of patient advocacy organizations and funding agencies, development of these types of treatments is also attainable.
  • #61
    https://link.springer.com/article/10.1007/s40817-015-0005-5
    A number of classroom accommodations may be useful to address physical or developmental issues. […] For individuals with NS who attend college or other post-secondary institutions (e.g., vocational or career schools), services such as tutoring programs and academic accommodations should be available through their colleges disability service programs. […] There are currently no published clinical trials to evaluate the effectiveness of pharmacological treatments for mental health issues in NS. […] However, preliminary research on other RASopathies suggests several avenues for intervention. […] With the support of patient advocacy organizations and funding agencies, development of these types of treatments is also attainable.
  • #62 Noonan syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Noonan_syndrome
    No cure for NS is known. Treatment is based on the symptoms and underlying problems, and extra support in school may be required. […] Growth hormone therapy during childhood can increase an affected person’s final height. […] Management guidelines, divided by systems, including general, developmental, dental, growth and feeding, cardiovascular, audiological, haematological, renal and skeletal, that account for actions to be taken at diagnosis, after diagnosis and if symptomatic, have been published by an American consortium. […] Specifically, treatment of cardiovascular complications resemble that of the general population and treatment of bleeding diathesis is guided by the specific factor deficiency or platelet aggregation. […] Neuropsychological testing is recommended to find strengths and challenges to tailor support needed for school and career.
  • #63 Noonan Syndrome | Lurie Children’s
    https://www.luriechildrens.org/en/specialties-conditions/noonan-syndrome/
    There is no single treatment for Noonan syndrome. Treatment plans are created by a healthcare team with input from the patient and their family. […] Early intervention programs are a useful support resource to help address the developmental differences often seen in children with Noonan syndrome. In some cases, children with Noonan syndrome may need additional support in school and benefit from an individualized education program (IEP). […] Some people with Noonan syndrome have bleeding problems. These problems have a variety of causes and are treated according to their cause. Additionally, delayed or reduced growth is often treated with growth hormone therapy which can help increase the rate of growth for a child with Noonan syndrome. […] Our team works closely with researchers who study RASopathies, like Noonan syndrome. Thus, we are informed of cutting-edge technology and treatments that may benefit the children in our care.
  • #64 Noonan Syndrome – Causes, Symptoms, Diagnosis and Treatment
    https://www.medindia.net/health/conditions/noonan-syndrome.htm
    Children with evidence of growth failure should have baseline investigations and nutrition correction by appropriate methods. […] Therapeutic interventions as indicated – growth hormone treatment for growth failure, thyroxine for hypothyroidism, estrogen or testosterone for pubertal growth delays. […] Growth hormone has been successfully used in the treatment of short stature associated with Noonan syndrome. […] Problems with the Renal and Genitourinary System: Renal ultrasonography is mandatory, to diagnose undescended testes and corrective surgery for the same should be done at 1 year of age. […] Nutrition: Consultation for feeding difficulties or recurrent vomiting, with or without bile in the vomitus should be made as early as possible to prevent malnourishment. […] Hematology: A complete blood count should be done to spot problems with the hematological system.
  • #65 Noonan Syndrome: Diagnosis & Treatment | NewYork-Presbyterian
    https://www.nyp.org/pediatrics/noonan-syndrome/treatment
    There is no treatment to correct the underlying genetic changes that cause Noonan syndrome. Rather the symptoms and complications are treated much as they would be in others with similar health issues. Since Noonan syndrome can affect so many areas of the body, patients may rely on a team of specialists for care. […] Aspects of Noonan syndrome that typically receive treatment include: […] An endocrinologist will monitor a child’s growth rate and may recommend growth hormone therapy […] Surgery may be needed soon after birth or later to repair congenital heart problems. In other cases, medications are recommended. Heart monitoring by a cardiologist is a lifelong part of health care for many people with Noonan syndrome. […] A hematologist may be a healthcare team member and may recommend medication to help with clotting
  • #66 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    For early childhood developmental delays, ask your doctor or health care professional about infant stimulation programs. Physical and speech therapies may be needed. In some cases, special education or teaching strategies tailored to your child’s needs may be appropriate. […] Eye exams are recommended at least every two years. Glasses alone can treat most eye issues. Surgery may be needed for some conditions, such as cataracts. Hearing screenings are recommended yearly during childhood. […] If there’s a history of easy bruising or bleeding problems, do not use aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help blood clot. Let health care professionals know about issues with bleeding and bruising before any procedures. […] Buildup of fluid in the body may or may not need treatment. Talk with your doctor or health care team about this. They may suggest certain steps to take.
  • #67 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    For early childhood developmental delays, ask your doctor or health care professional about infant stimulation programs. Physical and speech therapies may be needed. In some cases, special education or teaching strategies tailored to your child’s needs may be appropriate. […] Eye exams are recommended at least every two years. Glasses alone can treat most eye issues. Surgery may be needed for some conditions, such as cataracts. Hearing screenings are recommended yearly during childhood. […] If there’s a history of easy bruising or bleeding problems, do not use aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help blood clot. Let health care professionals know about issues with bleeding and bruising before any procedures. […] Buildup of fluid in the body may or may not need treatment. Talk with your doctor or health care team about this. They may suggest certain steps to take.
  • #68 Noonan syndrome – Overview of Information and Clinical Research
    https://clinicaltrials.eu/disease/noonan-syndrome/
    Somatropin is a growth hormone used to treat growth failure in children with Noonan syndrome, helping to increase height. […] Propranolol is a beta-blocker that can be used to manage heart defects associated with Noonan syndrome by controlling heart rate and blood pressure. […] Desmopressin is used to treat bleeding disorders in Noonan syndrome by promoting blood clotting. […] While there is no single treatment for Noonan syndrome, it is possible to address many of its symptoms. […] Medical care plays a vital role in managing Noonan syndrome. It helps in identifying and treating associated medical complications, which is essential for improving the long-term outlook. […] These Phase III trials are pivotal in determining the long-term safety and efficacy of somapacitan for treating short stature in children.
  • #69 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    For early childhood developmental delays, ask your doctor or health care professional about infant stimulation programs. Physical and speech therapies may be needed. In some cases, special education or teaching strategies tailored to your child’s needs may be appropriate. […] Eye exams are recommended at least every two years. Glasses alone can treat most eye issues. Surgery may be needed for some conditions, such as cataracts. Hearing screenings are recommended yearly during childhood. […] If there’s a history of easy bruising or bleeding problems, do not use aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help blood clot. Let health care professionals know about issues with bleeding and bruising before any procedures. […] Buildup of fluid in the body may or may not need treatment. Talk with your doctor or health care team about this. They may suggest certain steps to take.
  • #70 Noonan Syndrome | Symptoms, Diagnosis & Treatment
    https://www.cincinnatichildrens.org/health/n/noonan-syndrome
    There is no cure for Noonan syndrome, but several interventions and therapies are available. Management is individually tailored to each patient, based on their specific clinical features. […] Early intervention services including physical, occupational, and / or speech therapy may be recommended for an individual with delayed development. […] Growth hormone supplementation is an option for individuals with short stature. Individuals on growth hormone are followed by an endocrinologist. […] Individuals with bleeding disorders should be followed by a specialist called a hematologist. Medication may be given to reduce the risk for abnormal bleeding. […] Other specialists may be involved in the care of individuals with Noonan syndrome, depending on the specific complications or symptoms of that person.
  • #71 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    For early childhood developmental delays, ask your doctor or health care professional about infant stimulation programs. Physical and speech therapies may be needed. In some cases, special education or teaching strategies tailored to your child’s needs may be appropriate. […] Eye exams are recommended at least every two years. Glasses alone can treat most eye issues. Surgery may be needed for some conditions, such as cataracts. Hearing screenings are recommended yearly during childhood. […] If there’s a history of easy bruising or bleeding problems, do not use aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help blood clot. Let health care professionals know about issues with bleeding and bruising before any procedures. […] Buildup of fluid in the body may or may not need treatment. Talk with your doctor or health care team about this. They may suggest certain steps to take.
  • #72 Noonan syndrome: Causes, symptoms, and management
    https://www.medicalnewstoday.com/articles/179200
    Learning difficulties: Infant stimulation programs, physical therapy, speech therapy, and educational interventions may be necessary to address learning problems in childhood. […] Excessive bleeding and bruising: Drugs to help blood clotting may be prescribed, and it may be recommended to avoid aspirin and products which contain it. […] Undescended testicle: Surgery may be required if one or both testicles fail to move into position. […] Eye and ear issues: Regular vision and hearing examinations of eye health and hearing may be advised. Glasses, contact lenses, and hearing aids will be recommended as appropriate.
  • #73 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    For early childhood developmental delays, ask your doctor or health care professional about infant stimulation programs. Physical and speech therapies may be needed. In some cases, special education or teaching strategies tailored to your child’s needs may be appropriate. […] Eye exams are recommended at least every two years. Glasses alone can treat most eye issues. Surgery may be needed for some conditions, such as cataracts. Hearing screenings are recommended yearly during childhood. […] If there’s a history of easy bruising or bleeding problems, do not use aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help blood clot. Let health care professionals know about issues with bleeding and bruising before any procedures. […] Buildup of fluid in the body may or may not need treatment. Talk with your doctor or health care team about this. They may suggest certain steps to take.
  • #74 Noonan Syndrome: Diagnosis & Treatment | NewYork-Presbyterian
    https://www.nyp.org/pediatrics/noonan-syndrome/treatment
    Regular eye exams and glasses can address the vision issues affecting most people with Noonan syndrome […] Males may need surgery if one or both testicles have not moved into position during the first year of life […] Specialists including occupational, physical, and speech therapists work with children with Noonan syndrome. Other support for issues that affect learning can help school-age children.
  • #75 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    For early childhood developmental delays, ask your doctor or health care professional about infant stimulation programs. Physical and speech therapies may be needed. In some cases, special education or teaching strategies tailored to your child’s needs may be appropriate. […] Eye exams are recommended at least every two years. Glasses alone can treat most eye issues. Surgery may be needed for some conditions, such as cataracts. Hearing screenings are recommended yearly during childhood. […] If there’s a history of easy bruising or bleeding problems, do not use aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help blood clot. Let health care professionals know about issues with bleeding and bruising before any procedures. […] Buildup of fluid in the body may or may not need treatment. Talk with your doctor or health care team about this. They may suggest certain steps to take.
  • #76 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    For early childhood developmental delays, ask your doctor or health care professional about infant stimulation programs. Physical and speech therapies may be needed. In some cases, special education or teaching strategies tailored to your child’s needs may be appropriate. […] Eye exams are recommended at least every two years. Glasses alone can treat most eye issues. Surgery may be needed for some conditions, such as cataracts. Hearing screenings are recommended yearly during childhood. […] If there’s a history of easy bruising or bleeding problems, do not use aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help blood clot. Let health care professionals know about issues with bleeding and bruising before any procedures. […] Buildup of fluid in the body may or may not need treatment. Talk with your doctor or health care team about this. They may suggest certain steps to take.
  • #77 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    For early childhood developmental delays, ask your doctor or health care professional about infant stimulation programs. Physical and speech therapies may be needed. In some cases, special education or teaching strategies tailored to your child’s needs may be appropriate. […] Eye exams are recommended at least every two years. Glasses alone can treat most eye issues. Surgery may be needed for some conditions, such as cataracts. Hearing screenings are recommended yearly during childhood. […] If there’s a history of easy bruising or bleeding problems, do not use aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help blood clot. Let health care professionals know about issues with bleeding and bruising before any procedures. […] Buildup of fluid in the body may or may not need treatment. Talk with your doctor or health care team about this. They may suggest certain steps to take.
  • #78 Noonan syndrome: Causes, symptoms, and management
    https://www.medicalnewstoday.com/articles/179200
    Learning difficulties: Infant stimulation programs, physical therapy, speech therapy, and educational interventions may be necessary to address learning problems in childhood. […] Excessive bleeding and bruising: Drugs to help blood clotting may be prescribed, and it may be recommended to avoid aspirin and products which contain it. […] Undescended testicle: Surgery may be required if one or both testicles fail to move into position. […] Eye and ear issues: Regular vision and hearing examinations of eye health and hearing may be advised. Glasses, contact lenses, and hearing aids will be recommended as appropriate.
  • #79 Noonan syndrome | Better Health Channel
    https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/noonan-syndrome
    prescription glasses to correct short-sightedness […] regular injections of growth hormone to help your child achieve a height closer to that typical for their age […] surgical correction of undescended testicles (orchidopexy) […] anticonvulsant medication if your child experiences seizures […] speech therapy […] special education this is necessary for about 10 per cent of children with Noonan syndrome […] behaviour management if appropriate […] treatment to manage mild blood-clotting problems […] dental and orthodontic treatment […] if glue ear is a problem, it can be managed with an operation to insert drainage tubes (grommets).
  • #80 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    If one or both testicles have not moved into the proper position within the first few months of life, your child may need surgery. […] Other evaluations and regular follow-up care may be needed. This depends on specific issues. Anyone with Noonan syndrome should have medical follow-up from time to time on an ongoing basis.
  • #81
    https://111.wales.nhs.uk/encyclopaedia/n/article/noonansyndrome/
    If you have a baby boy with an undescended testicle, or testicles that don’t descend naturally within a few months of birth, corrective surgery is usually recommended. […] A surgical procedure known as an orchidopexy is the usual treatment for undescended testicles. It involves making a small cut in your child’s tummy or groin and moving the testicle(s) into the correct position.
  • #82 Noonan Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK532269/
    There is no cure for Noonan syndrome as it is a genetically inherited disease. Management of Noonan syndrome is targeted toward symptomatic improvement and supportive care. Interprofessional care is often needed; multiple organ systems are to be addressed. Hearing tests and ophthalmic exams are appropriate throughout childhood. In males with cryptorchidism, orchiopexy should be performed when the child is around 1 year old if the testes have not descended to reduce the risk of development of testicular cancer in adulthood. For congenital heart defects, an echo and ECG should be obtained. Even in patients without a diagnosis of cardiac defects, a cardiac evaluation is needed every 5 years. Short stature can be evaluated for the treatment of growth hormone. Appropriate supportive measures can be used to target lymphedema.
  • #83 Noonan Syndrome – Causes, Symptoms, Diagnosis and Treatment
    https://www.medindia.net/health/conditions/noonan-syndrome.htm
    Children with evidence of growth failure should have baseline investigations and nutrition correction by appropriate methods. […] Therapeutic interventions as indicated – growth hormone treatment for growth failure, thyroxine for hypothyroidism, estrogen or testosterone for pubertal growth delays. […] Growth hormone has been successfully used in the treatment of short stature associated with Noonan syndrome. […] Problems with the Renal and Genitourinary System: Renal ultrasonography is mandatory, to diagnose undescended testes and corrective surgery for the same should be done at 1 year of age. […] Nutrition: Consultation for feeding difficulties or recurrent vomiting, with or without bile in the vomitus should be made as early as possible to prevent malnourishment. […] Hematology: A complete blood count should be done to spot problems with the hematological system.
  • #84 Noonan syndrome
    https://www.mymlc.com/health-information/diseases-and-conditions/n/noonan-syndrome/
    Treatment for bleeding and bruising. If there’s a history of easy bruising or excessive bleeding, avoid aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help the blood to clot. Notify your doctor before any procedures. […] Treatment for lymphatic problems. Lymphatic problems can occur in many ways and may not require treatment. If they do require treatment, your doctor can suggest appropriate measures. […] Treatment for genital problems. If one or both testicles haven’t moved into proper position within the first few months of life (undescended testicle), surgery may be needed. […] Other evaluations and regular follow-up care may be recommended depending on specific issues, for example, regular dental care. Children, teens and adults should continue to have ongoing, periodic evaluations by their health care professional.
  • #85 Noonan Syndrome – Causes, Symptoms, Diagnosis and Treatment
    https://www.medindia.net/health/conditions/noonan-syndrome.htm
    Neurological, Cognitive and Behavioral Problems: Developmental screening annually with complete neuropsychological testing if the screening result is not satisfactory. […] Problems with the Eyes and Ears: A full eye checkup followed by a full audiology and speech checkup should be done. […] Orthopedic and Dental Problems: Annual examination of the chest and back should be done. Oral examination is done during each visit. […] Problems with the Lymphatic System: Those with peripheral lymphoedema should be referred to specialty lymphoedema clinics and associated hospitals. […] Risk while Undergoing Anesthesia: Individuals with Noonan syndrome are at an increased risk of malignant hyperthermia when receiving general anesthesia compared to the unaffected ones, and certain anesthetic agents need to be stopped and avoided.
  • #86 Noonan Syndrome (Leopard Syndrome): Causes & Outlook
    https://my.clevelandclinic.org/health/diseases/17926-noonan-syndrome
    Noonan syndrome has no cure. But effective treatments can help you and your child manage symptoms. […] Your child’s healthcare team develops a treatment plan for Noonan syndrome based on your child’s symptoms and their severity. Your child may receive: Assistive devices such as eyeglasses or hearing aids. Behavior or speech therapy. Educational support for learning disabilities. Medication to ease problems with your child’s heart, treat bleeding or improve slowed growth. Growth hormone therapy. Supportive therapies, such as compression therapy for lymphedema. […] In some cases, your healthcare provider may recommend surgery. Early diagnosis is important for effective treatment and follow-up care. […] Your care team will recommend a treatment that’s right for your child. They’ll monitor and adjust medications or therapies based on your child’s condition and any side effects they’re having.
  • #87 CHOP Researchers Reverse Severe Lymphatic Disorder in Patient with Noonan Syndrome by Targeting Genetic Pathway | Children’s Hospital of Philadelphia
    https://www.chop.edu/news/chop-researchers-reverse-severe-lymphatic-disorder-patient-noonan-syndrome-targeting-genetic
    Researchers at Childrens Hospital of Philadelphia (CHOP) have resolved a severe lymphatic disorder in a girl with Noonan Syndrome that had led to upper gastrointestinal bleeding, fluid collection around the lungs, and numerous surgeries that had been unable to resolve her symptoms. By identifying a genetic mutation along a pathway related to lymphatic vessel development and function, the research team was able to target the pathway using an existing drug they had used in a previous case to remodel a patients lymphatic system. […] The case study, which was published today in Pediatrics, describes a resolution of the patients symptoms within three months while on the medication. […] The research team had previously used a MEK inhibitor in another patient with a severe lymphatic disorder with great success. That patient had a mutation in the ARAF gene, which is also on the RAS-MAPK pathway. Within months of beginning treatment with trametinib, a MEK inhibitor, the patient saw a resolution of his symptoms and a complete remodeling of his lymphatic system.
  • #88 CHOP Researchers Reverse Severe Lymphatic Disorder in Patient with Noonan Syndrome by Targeting Genetic Pathway | Children’s Hospital of Philadelphia
    https://www.chop.edu/news/chop-researchers-reverse-severe-lymphatic-disorder-patient-noonan-syndrome-targeting-genetic
    Given that SOS1 operates on the same pathway as ARAF, Jean Belasco, MD, an oncologist in CHOPs Cancer Center who co-led the study, applied for compassionate use of the drug in Marias case, given the lack of other treatment options. […] Within three months of starting the drug, Marias vital signs stabilized. The bleeding stopped, her electrolyte, hemoglobin, and albumin levels returned to normal, and she began to gain weight. […] Remarkable advances in genetics have allowed us to uncover these mutations and cluster them into selective pathways and determine effective therapies based on genetic mutations with very high precision, said Hakonarson. […] He added that the treatment could also benefit patients with other genetic defects, though he noted the ongoing use of the drug treats the symptoms caused by these mutations, but does not fix the gene or cure the underlying condition. […] MEK inhibition has the potential to have significant effects on other organ systems affected by RAS-MAPK gene defects, such as the heart, eyes, skin and the coagulation system, Hakonarson said.
  • #89 Noonan Syndrome – Causes, Symptoms, Diagnosis and Treatment
    https://www.medindia.net/health/conditions/noonan-syndrome.htm
    Children with evidence of growth failure should have baseline investigations and nutrition correction by appropriate methods. […] Therapeutic interventions as indicated – growth hormone treatment for growth failure, thyroxine for hypothyroidism, estrogen or testosterone for pubertal growth delays. […] Growth hormone has been successfully used in the treatment of short stature associated with Noonan syndrome. […] Problems with the Renal and Genitourinary System: Renal ultrasonography is mandatory, to diagnose undescended testes and corrective surgery for the same should be done at 1 year of age. […] Nutrition: Consultation for feeding difficulties or recurrent vomiting, with or without bile in the vomitus should be made as early as possible to prevent malnourishment. […] Hematology: A complete blood count should be done to spot problems with the hematological system.
  • #90 Noonan syndrome | Better Health Channel
    https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/noonan-syndrome
    Currently there is no cure, but symptoms of Noonan syndrome can be medically managed. Your childs health care team will coordinate various management strategies for different symptoms. These can include cardiac monitoring for heart irregularities, medication for blood clotting, and speech and educational interventions for any learning difficulties they may experience. […] There is currently no cure for Noonan syndrome. Treatment and condition management aims to ease some of the associated issues. If your child has been diagnosed with Noonan syndrome their treatment may include: […] for a mild heart irregularity, it may be enough to carefully monitor your child on an outpatient basis […] surgical correction of any severe heart structural anomalies […] if feeding is a problem, your baby may be fed by nasogastric tube (a tube threaded into the nose, down the oesophagus and into the stomach)
  • #91 Noonan Syndrome – Causes, Symptoms, Diagnosis and Treatment
    https://www.medindia.net/health/conditions/noonan-syndrome.htm
    Children with evidence of growth failure should have baseline investigations and nutrition correction by appropriate methods. […] Therapeutic interventions as indicated – growth hormone treatment for growth failure, thyroxine for hypothyroidism, estrogen or testosterone for pubertal growth delays. […] Growth hormone has been successfully used in the treatment of short stature associated with Noonan syndrome. […] Problems with the Renal and Genitourinary System: Renal ultrasonography is mandatory, to diagnose undescended testes and corrective surgery for the same should be done at 1 year of age. […] Nutrition: Consultation for feeding difficulties or recurrent vomiting, with or without bile in the vomitus should be made as early as possible to prevent malnourishment. […] Hematology: A complete blood count should be done to spot problems with the hematological system.
  • #92 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    If one or both testicles have not moved into the proper position within the first few months of life, your child may need surgery. […] Other evaluations and regular follow-up care may be needed. This depends on specific issues. Anyone with Noonan syndrome should have medical follow-up from time to time on an ongoing basis.
  • #93 Noonan Syndrome | AAFP
    https://www.aafp.org/pubs/afp/issues/2014/0101/p37.html
    Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. […] Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome specific growth charts and treatment guidelines are available. […] Management of patients with Noonan syndrome is optimized by adherence to age-specific guidelines that emphasize screening and testing for common health issues. […] Referral to a clinical geneticist for assistance in the diagnosis and management of Noonan syndrome may be helpful. […] Clinical growth charts are also available via a European network at http://www.dyscerne.org. […] System-based management guidelines to assist physicians caring for patients with Noonan syndrome and their families are available.
  • #94 Noonan Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK532269/
    There is no cure for Noonan syndrome as it is a genetically inherited disease. Management of Noonan syndrome is targeted toward symptomatic improvement and supportive care. Interprofessional care is often needed; multiple organ systems are to be addressed. Hearing tests and ophthalmic exams are appropriate throughout childhood. In males with cryptorchidism, orchiopexy should be performed when the child is around 1 year old if the testes have not descended to reduce the risk of development of testicular cancer in adulthood. For congenital heart defects, an echo and ECG should be obtained. Even in patients without a diagnosis of cardiac defects, a cardiac evaluation is needed every 5 years. Short stature can be evaluated for the treatment of growth hormone. Appropriate supportive measures can be used to target lymphedema.
  • #95 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    Although there’s no cure for Noonan syndrome, treatments can help decrease its effects. The earlier a diagnosis is made and treatment begins, the greater the benefits. […] Treatment for Noonan syndrome depends on the symptoms and complications and how serious they are. Many of the health and physical issues are treated the same as they would be for anyone else. Given the many problems with this condition, a coordinated team approach is best. […] Recommended approaches may include: […] Certain drugs may treat some kinds of heart problems. If there’s a problem with the heart’s valves, surgery may be needed. The doctor also may recommend that heart function be looked at from time to time. […] A health care professional should measure height three times a year until age 3 and then once a year until adulthood. This will make sure your child is growing. To find out if there is a problem with nutrition, blood tests may be ordered. If your child’s growth hormone levels are not high enough, growth hormone therapy may be a treatment option.
  • #96 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    For early childhood developmental delays, ask your doctor or health care professional about infant stimulation programs. Physical and speech therapies may be needed. In some cases, special education or teaching strategies tailored to your child’s needs may be appropriate. […] Eye exams are recommended at least every two years. Glasses alone can treat most eye issues. Surgery may be needed for some conditions, such as cataracts. Hearing screenings are recommended yearly during childhood. […] If there’s a history of easy bruising or bleeding problems, do not use aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help blood clot. Let health care professionals know about issues with bleeding and bruising before any procedures. […] Buildup of fluid in the body may or may not need treatment. Talk with your doctor or health care team about this. They may suggest certain steps to take.
  • #97 Noonan syndrome – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
    For early childhood developmental delays, ask your doctor or health care professional about infant stimulation programs. Physical and speech therapies may be needed. In some cases, special education or teaching strategies tailored to your child’s needs may be appropriate. […] Eye exams are recommended at least every two years. Glasses alone can treat most eye issues. Surgery may be needed for some conditions, such as cataracts. Hearing screenings are recommended yearly during childhood. […] If there’s a history of easy bruising or bleeding problems, do not use aspirin and aspirin-containing products. In some cases, doctors may prescribe drugs that help blood clot. Let health care professionals know about issues with bleeding and bruising before any procedures. […] Buildup of fluid in the body may or may not need treatment. Talk with your doctor or health care team about this. They may suggest certain steps to take.
  • #98 Noonan Syndrome – Causes, Symptoms, Diagnosis and Treatment
    https://www.medindia.net/health/conditions/noonan-syndrome.htm
    Neurological, Cognitive and Behavioral Problems: Developmental screening annually with complete neuropsychological testing if the screening result is not satisfactory. […] Problems with the Eyes and Ears: A full eye checkup followed by a full audiology and speech checkup should be done. […] Orthopedic and Dental Problems: Annual examination of the chest and back should be done. Oral examination is done during each visit. […] Problems with the Lymphatic System: Those with peripheral lymphoedema should be referred to specialty lymphoedema clinics and associated hospitals. […] Risk while Undergoing Anesthesia: Individuals with Noonan syndrome are at an increased risk of malignant hyperthermia when receiving general anesthesia compared to the unaffected ones, and certain anesthetic agents need to be stopped and avoided.
  • #99 Noonan Syndrome – Causes, Symptoms, Diagnosis and Treatment
    https://www.medindia.net/health/conditions/noonan-syndrome.htm
    Neurological, Cognitive and Behavioral Problems: Developmental screening annually with complete neuropsychological testing if the screening result is not satisfactory. […] Problems with the Eyes and Ears: A full eye checkup followed by a full audiology and speech checkup should be done. […] Orthopedic and Dental Problems: Annual examination of the chest and back should be done. Oral examination is done during each visit. […] Problems with the Lymphatic System: Those with peripheral lymphoedema should be referred to specialty lymphoedema clinics and associated hospitals. […] Risk while Undergoing Anesthesia: Individuals with Noonan syndrome are at an increased risk of malignant hyperthermia when receiving general anesthesia compared to the unaffected ones, and certain anesthetic agents need to be stopped and avoided.
  • #100 Noonan Syndrome – Causes, Symptoms, Diagnosis and Treatment
    https://www.medindia.net/health/conditions/noonan-syndrome.htm
    Neurological, Cognitive and Behavioral Problems: Developmental screening annually with complete neuropsychological testing if the screening result is not satisfactory. […] Problems with the Eyes and Ears: A full eye checkup followed by a full audiology and speech checkup should be done. […] Orthopedic and Dental Problems: Annual examination of the chest and back should be done. Oral examination is done during each visit. […] Problems with the Lymphatic System: Those with peripheral lymphoedema should be referred to specialty lymphoedema clinics and associated hospitals. […] Risk while Undergoing Anesthesia: Individuals with Noonan syndrome are at an increased risk of malignant hyperthermia when receiving general anesthesia compared to the unaffected ones, and certain anesthetic agents need to be stopped and avoided.
  • #101 Noonan Syndrome: Diagnosis and Treatment – Terapia Online Presencial Madrid | Mentes Abiertas
    https://www.mentesabiertaspsicologia.com/blog-psicologia/noonan-syndrome-diagnosis-and-treatment
    Regular medical follow-up It is essential to monitor the progression of the disease, detect possible complications early and adjust the treatment plan according to the patient’s changing needs. This may include imaging tests, cardiac function tests, genetic evaluations, and regular consultations with specialists. […] Although there is no definitive cure for the syndrome, a comprehensive and coordinated approach to treatment can help improve patients’ quality of life and prognosis. […] It is essential that people with Noonan Syndrome receive appropriate medical follow-up, individualized educational support and interdisciplinary care to address your needs comprehensively.
  • #102 Noonan Syndrome: Diagnosis and Treatment – Terapia Online Presencial Madrid | Mentes Abiertas
    https://www.mentesabiertaspsicologia.com/blog-psicologia/noonan-syndrome-diagnosis-and-treatment
    Regular medical follow-up It is essential to monitor the progression of the disease, detect possible complications early and adjust the treatment plan according to the patient’s changing needs. This may include imaging tests, cardiac function tests, genetic evaluations, and regular consultations with specialists. […] Although there is no definitive cure for the syndrome, a comprehensive and coordinated approach to treatment can help improve patients’ quality of life and prognosis. […] It is essential that people with Noonan Syndrome receive appropriate medical follow-up, individualized educational support and interdisciplinary care to address your needs comprehensively.