Materiały źródłowe

• #1 Noonan Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK532269/

  Noonan syndrome occurs in approximately 1 in 1000 to 2500. Since the inheritance pattern is autosomal dominant, it affects both females and males equally. Males may display cryptorchidism, thus making the diagnosis at a younger age. Noonan syndrome occurs across all ethnic groups equally.[1][2] […] Noonan syndrome is typically a clinically diagnosed condition.

• #2 Noonan syndrome – UpToDate

  https://www.uptodate.com/contents/noonan-syndrome

  Noonan syndrome (NS) is a common autosomal-dominant condition that is associated with short stature and congenital heart disease (CHD), most often pulmonic stenosis. […] The prevalence of NS is widely quoted as 1 in 1000 to 1 in 2500. However, the true prevalence remains unknown. […] NS affects males and females equally but may be more recognizable in boys since they can present with cryptorchidism. […] NS occurs across all ethnic groups. […] NS is associated with advanced paternal age, similar to several other conditions with dominant inheritance.

• #3 Noonan Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/947504-overview

  The incidence of Noonan syndrome is estimated to be 1 case per 1000 to 1 case per 2500 live births. […] The incidence of Noonan syndrome appears to be consistent worldwide. […] The primary source of morbidity and mortality in patients with Noonan syndrome depends on the presence and type of congenital heart disease. […] Noonan syndrome is also characterized by a slight increase in the risk for certain cancers. […] A study by Jongmans et al also demonstrated an elevated cancer risk in patients with Noonan syndrome. […] Noonan syndrome is panethnic. […] Noonan syndrome occurs in either a sporadic or autosomal dominant fashion. In either case, males and females are equally affected. […] The disorder is present from birth, but age impacts the facial phenotype.

• #4 Noonan syndrome – UpToDate

  https://www.uptodate.com/contents/noonan-syndrome/print

  Noonan syndrome (NS) is a common autosomal-dominant condition that is associated with short stature and congenital heart disease (CHD), most often pulmonic stenosis. […] This topic reviews the epidemiology, genetics, pathophysiology, clinical manifestations, diagnosis, and management of NS. […] The prevalence of NS is widely quoted as 1 in 1000 to 1 in 2500. However, the true prevalence remains unknown. […] NS affects males and females equally but may be more recognizable in boys since they can present with cryptorchidism. […] NS occurs across all ethnic groups. […] NS is associated with advanced paternal age, similar to several other conditions with dominant inheritance.

• #5 Noonan Syndrome: What Physicians Need to Know

  https://www.medscape.org/viewarticle/563459

  Noonan syndrome is one of the most common nonchromosomal syndromes seen in children with congenital heart disease. […] Although Nora and colleagues estimated the frequency of NS to be 1 in 1000 to 1 in 2500 live births, no definitive incidence studies have been conducted. NS occurs worldwide, and there appears to be no racial predilection. […] Kramer and colleagues reported that among 1016 children with a variety of congenital heart defects, 1.4% had NS. Roberts and colleagues found that 7% of children requiring surgery for pulmonary stenosis had NS.

• #6 Noonan Syndrome | AAFP

  https://www.aafp.org/pubs/afp/issues/2014/0101/p37.html

  Noonan syndrome is characterized by marked variable expressivity, which makes it difficult to identify mildly affected individuals. The incidence is one in 1,000 to 2,500 live births for severe phenotype, but mild cases may be as common as one in 100 live births. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but de novo mutations are more common, accounting for 60% of cases. There is no known predilection by race or sex. […] The diagnosis of Noonan syndrome should be considered in all fetuses with a normal karyotype and increased nuchal translucency, especially when cardiac anomaly, polyhydramnios, and/or multiple effusions are observed. Management of patients with Noonan syndrome is optimized by adherence to age-specific guidelines that emphasize screening and testing for common health issues. U.S. and United Kingdom age-specific guidelines are available.

• #7

  https://journals.lww.com/md-cases/fulltext/2022/04000/an_early_diagnostic_case_of_noonan_syndrome_with.4.aspx

  Noonan syndrome is a genetic disorder with variable clinical manifestations that affects different systems. […] The incidence of Noonan syndrome has been reported to be 1/1000 – 1/2500 individuals in cases with severe phenotypes; however, for mild cases, the incidence can be as high as 1/100 individuals. […] Noonan syndrome can be transmitted through an autosomal dominant pattern; therefore, the affected individual has a 50% chance of transmitting the disorder to descendants. […] The association between height and weight hypotrophy, facial dysmorphia, and congenital pulmonary stenosis raised the suspicion of Noonan syndrome. […] After genetic confirmation of the syndrome, the patient was evaluated according to existing guidelines. […] An early and precise diagnosis of Noonan syndrome is important because each patient requires a personalized evaluation and treatment protocol.

• #8 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Noonan-Syndrome.aspx

  Noonan syndrome is a common autosomal dominant multiple congenital anomaly syndrome that was initially described over 40 years ago. […] The incidence of Noonan syndrome is consistent and reported to be between 1 in 1,000 and 1 in 2,500 live births, albeit mild expression is said to occur in up to 1 in 100 births in the general population. […] Familial reappearance is consistent with an autosomal dominant mode of inheritance; however, de novo mutations are more common, accounting for 60% of all cases. […] There is no known racial predilection for this disorder, and the average age of diagnosis is 9.

• #9 Noonan Syndrome Awareness Association

  https://noonansyndrome.com.au/

  There may be as many as 20,000 people with Noonan Syndrome in Australia but 50% of these people are undiagnosed or misdiagnosed. The NSAA works with health and medical education services to reduce this rate of misdiagnosis. […] The average age of diagnosis for Noonan Syndrome is 8 years old. This means many children miss out on early intervention. The NSAA works to improve early diagnosis and access to services.

• #10 Noonan Syndrome : Epidemiology, Genes Implicated

  https://www.prepladder.com/neet-ss-pediatrics/genetic-disorders/noonan-syndrome

  A familial 20% of cases exhibit autosomal dominant inheritance. In 1 in 1000 to 1 in 2500 live births, it is observed. Equitable in terms of gender. The majority of cases are caused by abnormalities in a particular pathway, the RAS-MAP kinase system. […] The most common cause of Noonan syndrome is autosomal dominant inheritance. […] Specific pathway (RAS-MAP kinase pathway) is involved in Noonan syndrome. […] The most common gene implicated in Noonan Syndrome is the PTPN-11 gene on 12q.24.1.

• #11 Noonan syndrome: improving recognition and diagnosis | Archives of Disease in Childhood

  https://adc.bmj.com/content/107/12/1073

  Noonan syndrome (NS) is a mostly dominantly inherited disorder affecting 1:1000 to 1:2500 live births. […] While many individuals have a de novo pathogenic variant, an affected parent (more commonly a female parent) is recognised in 20%40% of patients. […] Although formal epidemiological studies are lacking, prevalence is assumed to be similar across all ethnicities. […] It is proposed that increasing awareness of NS among non-specialist HCPs and other professionals could help direct a parent/carer to seek specialist advice and increase the number of NS diagnoses, with the potential to optimise lifelong patient outcomes. […] The broad availability of genetic testing for NS (in some countries) has led to increasing and earlier diagnosis of NS, but no systematic studies have so far addressed this point.

• #12 Noonan Syndrome | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/noonan-syndrome

  Noonan syndrome occurs in about 1 in 2,500 births. […] Approximately 30-75 percent of patients inherit a mutation in one of the genes associated with Noonan syndrome from a parent who also has Noonan syndrome. […] There is significant variability in the number of features and/or the severity of their presentation in children with Noonan syndrome. […] The exact magnitude of the tumor risk in individuals with Noonan syndrome is not well described, and may vary depending on the specific gene mutation. […] There are currently no standard cancer screening recommendations for patients with Noonan syndrome. […] Prenatal features suggestive for Noonan syndrome may include: Polyhydramnios (an excess of fluid in the amniotic sac), Hydronephrosis (distention of the kidney due to obstruction of the flow of urine), Pleural effusion (excess fluid that accumulates around the lungs), Edema (an abnormal accumulation of fluid beneath the skin), Cardiac defects, Distended jugular lymphatic sacs, Cystic hygroma (a fluid-filled lesion), Increased nuchal translucency (caused by buildup in fluid in the fetal neck due to a blockage of fluid in the developing fetal lymphatic system).

• #13 Noonan Syndrome: Symptoms, Diagnosis, Treatment, and More

  https://www.healthline.com/health/childrens-health/noonan-syndrome

  Noonan syndrome is a genetic condition that affects around 1 in every 1,000-2,500 people. […] Since signs and symptoms can vary greatly from person to person, some babies may be diagnosed at birth while others may not be diagnosed until later in life. […] About 30 to 75 percent of people with Noonan syndrome inherit it from a parent who carries a gene mutation. […] A negative blood test doesn’t always mean that a child doesn’t have Noonan syndrome, though. In 1 out of 5 cases, no genetic mutation is found. […] Parents who carry the gene mutations associated with Noonan syndrome have a 50 percent chance of passing along the mutation with each pregnancy. […] If you don’t have a family history of the disorder and you have one child with Noonan syndrome, your chances of encountering it again are much lower. Fewer than 1 percent of couples in which neither parent has Noonan syndrome go on to have another child with the condition.

• #14 About Noonan Syndrome

  https://www.genome.gov/Genetic-Disorders/Noonan-Syndrome

  Noonan syndrome is present in about 1 in 1,000 to 1 in 2,500 people. […] The diagnosis of Noonan syndrome is based on the person’s clinical symptoms and signs. […] Four genes – PTPN11, SOS1, RADF1 and KRAS – are the only genes that are known to be associated with Noonan syndrome. […] Approximately 50 percent of individuals with Noonan syndrome have mutations in the PTPN11 gene. […] The parent who has Noonan syndrome has a 1 in 2 (50 percent) chance to pass on the altered gene to a child who will be affected; and a 1 in 2 (50 percent) chance to pass on the normal version of the gene to a child who will not have Noonan syndrome. […] The chance for these parents to have another child with Noonan syndrome is very small (less than 1 percent).

• #15 FAQs • Genetics & RASopathies • Noonan Syndrome Association

  https://www.noonansyndrome.org.uk/faqs/genetics-rasopathies/

  Noonan syndrome is caused by a fault in one of several genes. […] Genetic testing can be used to confirm the diagnosis of Noonan syndrome and also to test for the condition in pregnancy. […] In the majority of people with the condition about 60% Noonan syndrome is caused by a new genetic change in the egg or sperm and so there is no family history. […] In some people, however, the faulty gene associated with Noonan syndrome is inherited from one parent who may or may not have obvious features of the condition themselves. […] The most common genetic cause of Noonan syndrome is a mutation in a gene called PTPN11. […] A mutation in PTPN11 occurs in about 50% of people with Noonan syndrome. […] In about 510% of cases, the genetic cause of Noonan syndrome is still not known. […] The genes associated with Noonan syndrome play a crucial role in the Ras-mitogen-activated protein kinase (Ras/MAPK) pathway, which is involved in the development and growth of cells in the body.

• #16 Noonan Syndrome (Leopard Syndrome): Causes & Outlook

  https://my.clevelandclinic.org/health/diseases/17926-noonan-syndrome

  Noonan syndrome is a relatively common genetic disorder. It occurs in up to 1 out of every 1,000 to 2,500 people. […] Genetic testing can find an abnormality in almost 80% of people with Noonan syndrome. For the rest, researchers don’t know the exact cause. […] Many children with Noonan syndrome experience slower-than-usual growth in adolescence, although they may be born at a typical length. About 25% have a learning disability, with only some children having an intellectual disability. Around 10% to 15% of children with Noonan syndrome need special education. Noonan syndrome can also cause developmental delays, behavioral issues or speech disorders. […] Some children with Noonan syndrome have an increased chance of an unusual childhood leukemia called juvenile myelomonocytic leukemia (JMML) or other childhood cancers. But the overall risk by age 20 is thought to be around 4%. […] Most people who have Noonan syndrome lead healthy, independent lives. Your child’s care team will work with you to manage your child’s symptoms and prevent complications.

• #17 Society for Pediatric Anesthesia – SPA News

  http://www3.pedsanesthesia.org/newsletters/2017fall/noonans.html

  The incidence of Noonan Syndrome is estimated to be between 1:1000 and 1:2500 live births. […] Due to highly variable expressivity, many mildly affected individuals may go undiagnosed into adulthood or until they have more prominently affected children. […] There is no known association with race or sex. […] Diagnosis is typically made by clinical features, but genetic testing can now confirm up to 70% of cases.

• #18 Noonan syndrome | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/noonan-syndrome?lang=us

  The estimated incidence is at ~1 in 1000-2500. As individuals have normal number of chromosomes, both males and females can be affected. […] Noonan syndrome (NS) is a genetically and phenotypically heterogeneous non-aneuploidic congenital RASopathy. Affected individuals can bear some clinical features similar to that of Turner syndrome.

• #19 NOONAN SYNDROME

  https://medicover-genetics.com/product/noonan-syndrome/

  The frequency of Noonan syndrome is estimated to be 1 in 1000 to 2500 live births. Noonan syndrome is more common in males than females. […] Noonan syndrome is an autosomal dominant inherited disorder with a broad, variable spectrum of symptoms, including facial dysmorphia, short stature, chest deformities and heart defects. It belongs to a group of cardiovascular conditions known as RASopathies, and in 50% of cases is due to pathogenic variants in the PTPN11 gene. […] Noonan syndrome is usually diagnosed when there are suggestive clinical findings. Sometimes, Noonan syndrome can also be detected prenatally through ultrasonography. Confirmation is done through molecular genetic testing for mutations in the associated genes.

• #20 Noonan syndrome | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-4

  The incidence of NS is reported to be between 1 in 1000 and 1 in 2500 live births. […] NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. […] A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples.

• #21 Noonan Syndrome—Historical Awareness and Genetic Issues | [current-page:pager]touchENDOCRINOLOGY

  https://touchendocrinology.com/thyroid/journal-articles/noonan-syndrome-historical-awareness-and-genetic-issues/

  Noonan syndrome is one of the most common non-chromosomal disorders found in children with congenital heart disease, occurring worldwide with an estimated incidence of between 1:1,000 and 1:2,500. […] The majority of patients with Noonan syndrome have an unremarkable pre-natal history, but polyhydramnios, cystic hygroma, and fetal hydrops are commonly reported. […] Cystic hygromas are often discovered by use of fetal ultrasound in early pregnancy in fetuses that subsequently show signs of Noonan syndrome, which regress or disappear late in the second trimester. […] Noonan syndrome should be suspected in any infant appearing dysmorphic with some hypotonia, poor feeding, and failure to thrive for no apparent cause. […] Over 90% of patients with Noonan syndrome have a pectus carinatum or pectus excavatum resulting in a shield-like chest deformity.

• #22 Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2012285

  Noonan syndrome (NS) is an autosomal dominant condition with an incidence of 1:1000-2500 live births. […] Prenatal features of NS are increased nuchal translucency (NT), distended jugular lymphatic sacs (JLS), cystic hygroma, hydrops fetalis, pleural effusion, polyhydramnios, CHD and renal abnormalities. […] The two most common indications for testing in this study were increased NT (44%) and cystic hygroma (48%). […] In the present study, we investigated the DNA of 56 additional fetuses with a normal karyotype and one or more abnormal ultrasound findings for a mutation in one or more of the NS genes in a diagnostic setting. […] The aim of this study is to provide a protocol for prenatal NS testing, to serve as a useful aid to facilitate parental counseling and targeted DNA testing.

• #23 Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2012285

  In the diagnostic study group, parallel sequencing of the coding regions and splice sites of PTPN11, KRAS, SOS1 and RAF1 was performed. […] The prenatal findings of the mutation-positive fetuses found in our diagnostic study group were increased NT, distended JLS, hydrothorax, renal anomalies, cardiac anomalies, cystic hygroma, hydrops fetalis, polyhydramnios and ascites. […] We recommend prenatal testing of PTPN11, KRAS and RAF1 in pregnancies with an increased NT and at least one of the following additional features: polyhydramnios, hydrops fetalis, renal anomalies, distended JLS, hydrothorax, cardiac anomalies, cystic hygroma and ascites. […] In the second study group of 60 anonymized fetuses with abnormal prenatal ultrasound findings, we detected a potential-positive test rate of 8.3%. […] The findings of both the diagnostic and the anonymized study group support the fact that cardiac anomalies alone will not differentiate between the presence or absence of a mutation in one of the NS genes and should thus not be the main indication for further investigation.

• #24 Noonan Syndrome | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/n/noonan-syndrome

  Noonan syndrome is a genetic condition with an incidence of 1 in 1,000 to 1 in 2,500 live births. […] Management is individually tailored to each patient, based on their specific clinical features. […] Prognosis in terms of life expectancy generally depends on the severity of any heart defect.

• #25 Noonan Syndrome Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/947504-workup

  All patients with Noonan syndrome should be evaluated to determine which disease manifestations they display. […] The previously cited updated recommendations from the 2023 AACR Childhood Cancer Predisposition Workshop state that in Noonan syndrome, there is not a high enough absolute cancer risk for nonhematologic malignancies to justify radiologic or laboratory surveillance. Nonetheless, the recommendations say that consideration can be given to educating patients and families on rhabdomyosarcoma, glioma, and neuroblastoma signs and symptoms. […] However, the previously mentioned updated recommendations from the 2023 AACR Childhood Cancer Predisposition Workshop state that evidence is lacking that otherwise healthy children with Noonan syndrome will benefit from routine surveillance with CBCs, so the guidelines do not recommend such surveillance in these individuals.

• #26 Noonan syndrome and RASopathies: Clinical features, diagnosis and management

  https://www.e-kjgm.org/journal/view.html?doi=10.5734/JGM.2019.16.1.1

  Noonan syndrome (NS) is one of the most common syndromes inherited in autosomal dominant manner. The incidence of NS is known to be one out of 1,000-2,000. In Korea, more than 250 clinically diagnosed Noonan patients are enrolled in registry. […] The diagnosis of NS is primarily based on clinical features aforementioned. Therefore, high clinical suspicion should be a prerequisite for the diagnosis. Mutation analysis of 20 genes (PTPN11, SOS1, RAF1, SHOC2, RIT, KRAS, NRAS, MRAS, BRAF, MEK1, MEK2, CBL, SOS2, SPRY1, LZTR1, A2ML1, RRAS, RRAS2, RASA2, PPP1CB) makes the diagnosis confirmatory in about 80%. […] Management of NS patients is entirely dependent on its individual manifestation. Regular audiometric and ophthalmologic evaluations are needed. Surgical intervention is required for congenital heart defects and undescended testes.

• #27 Novel insights in Noonan syndrome

  https://oatext.com/novel-insights-in-noonan-syndrome.php

  Noonan syndrome is an inherited developmental disorder, classically identified by typical appearance, short stature, and cardiologic impairment. […] With a cumulative incidence of about 1 per 1000 live births, RASopathies represent one of the largest groups of developmental disorders. The incidence of NS is estimated to be 1 case per 1000 to 1 case per 2500 live births. It is the most common cause of congenital heart disease after trisomy 21. […] In every child with NS, multidisciplinary evaluations are recommended in order to establish the extent of disease. Monitoring of anomalies found in any system is a paediatricians responsibility. […] The multitude of haematologic and solid malignancies reported in association with the RASopathies requires special clinical awareness for malignancy screening. Patients with these disorders should be evaluated for the presence of specific types of tumors reported with higher frequency in this population (such as leukaemia, lymphoma, neuroblastoma, rhabdomyosarcoma, brain tumours, and bladder carcinoma) depending on clinical symptoms, examination, and laboratory findings.

• #28 Noonan syndrome and RASopathies: Clinical features, diagnosis and management

  https://www.e-kjgm.org/journal/view.html?doi=10.5734/JGM.2019.16.1.1

  The risk of cancer development in NS patients is 3.5 fold higher than normal population, especially hematological malignancies and solid tumors. […] Understanding of correlations between phenotypes and genotypes is able to make genotype-based surveillance and management possible. For instances, the PTPN11 mutations are commonly associated with pulmonary stenosis, pectus deformity easy bruising and hematological malignancies, while hypertrophic cardiomyopathy is often correlated with RAF1 and RIT1 mutations. […] The RASopathies patients carrying the mutation in SHOC2, BRAF, KRAS, and HRAS mutations show higher incidence of intellectual disability than PTPN11 and SOS1 mutation carrying patients.

• #29 Noonan Syndrome | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/noonan-syndrome/

  Noonan syndrome occurs in about 1 in 1,000 to 1 in 2,500 of live births. […] Since Noonan syndrome is a genetic disorder, it can be passed down from parent to child. […] Specific recommendations for care may also depend on age. Follow up with specialists can help inform appropriate screening and testing recommendations for common health issues that may affect someone with Noonan syndrome. […] One of the reasons it is important to confirm a diagnosis of Noonan syndrome as early as possible is because the condition varies widely from person to person. […] As a result, the life expectancy also differs among people who have Noonan syndrome.

• #30 Orphanet: Noonan syndrome

  https://www.orpha.net/en/disease/detail/648

  The birth prevalence of Noonan syndrome (NS) is estimated between 1:1000 to 1:2500. […] In childhood, there is an increased risk of tumors and leukemias (noteworthy juvenile myelomonocytic leukemia), with a cumulative cancer risk of about 4% by age 20. The risk of common adult cancer does not appear increased.

• #31 Noonan syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/noonan-syndrome/

  Noonan syndrome occurs in approximately 1 in 1,000 to 2,500 people. […] Most people with Noonan syndrome have some form of critical congenital heart disease. The most common heart defect in these individuals is a narrowing of the valve that controls blood flow from the heart to the lungs (pulmonary valve stenosis). […] It has been estimated that children with Noonan syndrome have an eightfold increased risk of developing leukemia or other cancers over age-matched peers.

• #32 Noonan syndrome

  https://atlasgeneticsoncology.org/cancer-prone-disease/10085/noonan-syndrome

  Noonan syndrome is an autosomal dominant disorder. The prevalence of Noonan syndrome has not been determined accurately to date. Most authors cite the figure of 1 in 1,000-2,500 live births. However, that estimate was not based on a population study. […] Fetal loss occurs for Noonan syndrome so disease incidence is higher than prevalence, but no estimate of the magnitude of this discrepancy is available. […] Children with Noonan syndrome are predisposed to malignancies, juvenile myelomonocytic leukemia (JMML) most commonly. JMML accounts for approximately 30% of cases of myelodysplastic and myeloproliferative syndromes and 2% of leukemias. […] A statistically significant association with pulmonary valve stenosis and lower incidence of hypertrophic cardiomyopathy was found among the group with PTPN11 mutations. Overall, a large percentage of PTPN11 mutation-negative individuals tended to exhibit fewer or mild clinical features of NS, even though approximately half of the Noonan syndrome patients without a PTPN11 mutation appeared clinically indistinguishable from typical PTPN11 mutation-positive patients.

• #33

  https://www.omim.org/entry/163950

  Noonan syndrome was one of the causes found for posterior cervical hygroma in a series of previable fetuses studied by Kalousek and Seller (1987). […] The authors highlighted the importance of recognizing this common, treatable feature of Noonan syndrome. […] Noonan syndrome patients had significantly lower values for platelet count, activity of factors XI, XII, and protein C (612283) compared to controls. […] Juvenile myelomonocytic leukemia (JMML; 607785) has been observed in some cases of Noonan syndrome (Bader-Meunier et al., 1997; Fukuda et al., 1997; Choong et al., 1999). […] Strullu et al. (2014) found that 36 (5.6%) of 641 NS1 patients with a confirmed germline PTPN11 mutation developed a myeloproliferative disorder (MPD in 16) or juvenile myelomonocytic leukemia (JMML in 20).

• #34 Table 8. [Recommended Surveillance for Individuals with Noonan Syndrome]. – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1124/table/noonan.T.recommended_surveillance_for_in/

  Recommended Surveillance for Individuals with Noonan Syndrome […] Despite the apparent increased incidence of hematologic and solid tumor malignancies, no consensus surveillance strategies have been evaluated or recommended.

• #35

  https://www.nhs.uk/conditions/noonan-syndrome/

  It’s estimated that between 1 in 1,000 and 1 in 2,500 children are born with Noonan syndrome. It affects both sexes and all ethnic groups equally. […] If your child has Noonan syndrome, your clinical team will pass information about them on to the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS). […] This helps scientists look for better ways to prevent and treat Noonan syndrome.

• #36 Noonan syndrome: improving recognition and diagnosis | Archives of Disease in Childhood

  https://adc.bmj.com/content/107/12/1073

  Diagnosis and optimal follow-up of such cases is unclear and there remains a need for wider prospective studies of the natural history of NS, and better prediction of rare complications in mild disease. […] The importance of increased awareness of the subtleties of NS among specialists, such as endocrinopathies among endocrinologists, has been suggested. […] It is proposed that increased awareness of NS among non-specialist HCPs and other professionals could help direct a parent/carer to seek specialist advice and possible NS diagnosis, increasing the potential for optimising lifelong patient outcomes.

• #37 Noonan Syndrome – Epidemiology Forecast – 2032

  https://www.researchandmarkets.com/reports/5525444/noonan-syndrome-epidemiology-forecast-2032?srsltid=AfmBOop9waBzef5CLiqeNmBXo8IeupJ02ecxd5wz6Ak7LrbthD4dwJ9D

  The Noonan Syndrome epidemiology covered in the report provides historical as well as forecasted Noonan Syndrome epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom), and Japan from 2019 to 2032. The Noonan Syndrome report also provides the epidemiology trends observed in the 7MM during the study period, along with the assumptions undertaken. The calculated data are presented with relevant tables and graphs to give a clear view of the epidemiology at first sight. […] The Noonan Syndrome Epidemiology Report and Model provide an overview of the global trends of Noonan Syndrome in the seven major markets (7MM: US, France, Germany, Italy, Spain, UK, and Japan). […] The report provides insight into the historical and forecasted patient pool of Noonan Syndrome in seven major markets covering the United States, EU5 (Germany, Spain, France, Italy, UK), and Japan. […] The report assesses the disease risk and burden and highlights the unmet needs of Noonan Syndrome.

• #38 Families living with Noonan Syndrome call for more social support and medical awareness | News and events | Loughborough University

  https://www.lboro.ac.uk/news-events/news/2024/february/noonan-syndrome-awareness-report-families-impact/

  Andrea worries her daughter and other people with the same gene mutation will never get a diagnosis as she believes there is a hesitancy to fund studies into rare genetic diseases. […] The research from Loughborough University highlights difficulties we all face, whether its Noonan Syndrome or a different rare genetic condition.

• #39 Families living with Noonan Syndrome call for more social support and medical awareness | News and events | Loughborough University

  https://www.lboro.ac.uk/news-events/news/2024/february/noonan-syndrome-awareness-report-families-impact/

  A survey of more than 60 families living with Noonan Syndrome has highlighted the need for more social support and medical awareness. […] Noonan Syndrome, though classed as a rare genetic condition, is estimated to affect between 1 in 2000 to 1 in 2500 births in the UK, causing diverse health issues. […] One of the key survey findings is that there is a lack of awareness of the rare genetic condition even among medical professionals, which can lead to difficulties in accessing care. […] In addition to finding families struggle with a lack of awareness of the condition, another significant theme emerged from the survey responses: the social and emotional impacts of living with Noonan Syndrome are overlooked for both individuals and carers. […] Dr Coveney and the Noonan Syndrome Association are calling for greater Noonan Syndrome awareness, especially among medical professionals.

• #40 Families living with Noonan Syndrome call for more social support and medical awareness | News and events | Loughborough University

  https://www.lboro.ac.uk/news-events/news/2024/february/noonan-syndrome-awareness-report-families-impact/

  The majority of parent carers in our study were not able to find paid employment that fits around their caring responsibilities, which can lead to financial pressures and stress. […] The Noonan Syndrome Association supports families and individuals living with the condition by providing valuable information and resources, including essential webinars hosted by medical experts, and hosting social gatherings, such as Family Days, where people can connect. […] The couple discovered at 26 weeks pregnant, after a prenatal screening test, that one of their twins, Matilda, had Noonan Syndrome. […] They say the lack of awareness among medical professionals has been challenging, especially at the point of diagnosis. […] The family are advocating for greater awareness and increased social support for those living with the condition, having benefited from the Noonan Syndrome Associations Family Day after discovering the charity by chance.

• #41 Noonan syndrome: genetic and clinical update and treatment options | Anales de Pediatría

  https://www.analesdepediatria.org/en-noonan-syndrome-genetic-clinical-update-articulo-S2341287920300909

  The differential diagnosis must include other RASopathies as well as other syndromes unrelated to the RAS-MAPK pathway, such as Aarskog syndrome, Turner syndrome, Baraitser-Winter syndrome and actinopathies. […] It is important that the different specialists potentially involved in the management of these patients be knowledgeable of the clinical features and potential complications associated with NS. […] The recent authorization by the AEMPS of the use of rhGH for treatment of short stature in patients with NS adds a symptomatic treatment tool that did not use to be available in Spain.

• #42 New insights on Noonan syndrome’s clinical phenotype: a single center retrospective study | BMC Pediatrics | Full Text

  https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-022-03804-2

  Noonan syndrome (NS) is one of the most common genetic disorders, with an estimated prevalence of 1 in 1.000 to 2.500 newborns. […] The difficulty in identifying Noonan syndrome is increased by the fact that genetic tests are currently not able to detect an underlying mutation in around 10% of the cases. […] This study confirms the high phenotypical heterogeneity of NS, highlighting the fact that some clinical findings, which have not been frequently described in this condition before, could be helpful in leading to the diagnosis of NS, especially in subjects with a mild phenotype. A broader, deeper knowledge of the clinical manifestations of this condition is even more relevant considering that up to 10% of the patients lacks a genetic diagnosis, and thus also subtle features may represent the key to a precocious identification of the syndrome.

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