Materiały źródłowe

• #1 Noonan syndrome – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/symptoms-causes/syc-20354422

  Noonan syndrome is a genetic condition that stops typical development in various parts of the body. It can affect a person in several ways, including unusual facial features, short height, heart problems and other physical problems. It also can cause a child to develop more slowly than usual, for example, in walking, talking or learning new things. […] Symptoms of Noonan syndrome vary greatly and range from mild to severe. These symptoms may be related to the specific gene containing the change. […] How the face looks is one key feature that leads to a diagnosis of Noonan syndrome. Facial features may be easier to see in infants and young children but change with age. These distinct features become less clear in adults. […] Many people with Noonan syndrome are born with a heart problem that causes some of the key symptoms of the condition. This is called congenital heart disease. Also, some heart problems can occur later in life.

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

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

  Noonan syndrome is a genetic condition that can affect many parts of your child’s body. While symptoms vary widely, they most often include unusual facial features, short stature and heart problems. Early detection and treatment can ease symptoms and prevent complications. […] Symptoms typically include unusual facial features such as a tall forehead and wide-set eyes, lower-set ears and a shorter neck. Many children born with Noonan syndrome also have short stature (short height compared to those the same age), eye issues, low muscle tone and congenital (from birth) heart disease. […] Symptoms of Noonan syndrome vary from mild to life-threatening, depending on the affected part of your child’s body. Most symptoms start when the fetus is developing in the uterus or appear in children before age 11.

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

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

  Noonan syndrome is a genetic condition that can affect many parts of your child’s body. While symptoms vary widely, they most often include unusual facial features, short stature and heart problems. Early detection and treatment can ease symptoms and prevent complications. […] Symptoms typically include unusual facial features such as a tall forehead and wide-set eyes, lower-set ears and a shorter neck. Many children born with Noonan syndrome also have short stature (short height compared to those the same age), eye issues, low muscle tone and congenital (from birth) heart disease. […] Symptoms of Noonan syndrome vary from mild to life-threatening, depending on the affected part of your child’s body. Most symptoms start when the fetus is developing in the uterus or appear in children before age 11.

• #3 Noonan syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Noonan_syndrome

  Noonan syndrome is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. Heart problems may include pulmonary valve stenosis. The breast bone may either protrude or be sunken, while the spine may be abnormally curved. Intelligence is often normal. Complications of NS can include leukemia. Some of NS’ symptoms are shared with Watson syndrome, a related genetic condition. […] The most common signs leading to the diagnosis of Noonan syndrome are unique facial characteristics and musculoskeletal features. The facial characteristics are most prominent in infancy, becoming less apparent with age in many people with Noonan syndrome.

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

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

  Facial features of children with Noonan syndrome often become less noticeable as children get older. They may include: Tall forehead. A deep groove in the middle of their upper lip. Drooping eyelid (ptosis). A flat nose with a wide base and bulbous (bulging) tip. Low-set ears. Pale blue or green eye color. Wide-set, downward-slanting eyes that may cross (strabismus). […] Other common physical symptoms are: Bulging toes or finger pads. Nails that are abnormally shaped or discolored. Short neck with low hairline or extra folds of skin (webbing). Short stature. Sunken chest (pectus excavatum) or raised sternum (pectus carinatum). […] Many children born with Noonan syndrome have heart disorders (congenital heart disease). They may require immediate treatment or develop symptoms later in life. Heart conditions include: Atrial septal defect. Hypertrophic cardiomyopathy (thickening of the heart muscle). Pulmonary artery stenosis.

• #5

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

  Noonan syndrome is a genetic condition that can cause a wide range of distinctive features and health problems. […] The condition is present from before birth, although milder cases may not be diagnosed until a child gets older. […] The most common features of Noonan syndrome are: unusual facial features, such as a broad forehead, drooping eyelids and a wider-than-usual distance between the eyes; short stature (restricted growth); heart defects (congenital heart disease). […] Noonan syndrome can range from being very mild to severe and life-threatening. […] In many cases, the problems associated with the condition can be successfully treated at a young age or become less prominent over time. Almost all children with Noonan syndrome reach adulthood and most are able to lead normal, independent lives. […] However, problems such as heart defects can occasionally be severe and life-threatening. Some children may need emergency surgery to correct the problem as soon as possible, and most people with Noonan syndrome will need to have their heart monitored regularly throughout their life.

• #6 Noonan Syndrome – StatPearls – NCBI Bookshelf

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

  Noonan syndrome is typically a genetically inherited disorder with heterogeneous phenotypic manifestations that can change with age. The most consistent features are wide-set eyes, low-set ears, short stature, and pulmonic stenosis. The patient presentation can range from mild to severe. Noonan syndrome has phenotypical heterogeneous manifestations, which change with age. The most consistent features are widely set eyes, low-set ears, short stature, and pulmonic stenosis. For many with Noonan syndrome, there are no clinical manifestations at birth. Macrosomia and macrocephaly may be present. Cryptorchidism may be present in males. The most common congenital heart defects are pulmonic stenosis and hypertrophic cardiomyopathy; depending on the severity, it may or may not be detected in a routine physical. The infant may experience feeding difficulties and failure to thrive, hearing loss, and strabismus. Noonan syndrome is associated with intellectual and developmental delays. Patients may display delayed speech or motor milestones, deafness, and short stature. Distinct facial characteristics are formed in early childhood and change as people age. Features include hypertelorism, low-set ears, blue irises, ptosis, mild neck webbing, high forehead, down-slanting palpebral fissures, and epicanthic folds. Lymphatic dysplasia is common and can lead to early generalized lymphoedema in the extremities and abdomen. The prognosis in those with Noonan Syndrome depends on their phenotype’s severity. The severity of the heart defect is linked to the mortality and morbidity of patients. Many patients have an average lifespan and minimal morbidity. Complications of the disease include developmental delay with cognitive deficits that limit functionality and require aggressive support services for the affected patient. Physical complications may be due to severe cardiac abnormalities, such as valvular stenosis and hypertrophic cardiomyopathy, requiring ongoing medical care.

• #7 Noonan syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1781428/

  Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. […] 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.

• #8 What Is Noonan Syndrome? Does My Child Have the Signs?

  https://www.webmd.com/children/noonan-syndrome

  Noonan syndrome is a rare genetic disorder. If you have it, you might have certain identifiable facial features, short height, and unusual chest shape. You may also have heart defects. […] It can cause a wide range of other physical and developmental symptoms that usually start at birth. […] There are many symptoms, and they may be mild, moderate, or severe. […] Most babies with Noonan syndrome are also born with heart disease. […] Excessive bruising, nosebleeds, prolonged bleeding after an injury or surgery, and blood cancer (leukemia) are also symptoms. […] Delayed puberty and testes that don’t descend can cause infertility. […] Vision or hearing problems, feeding problems, mild intellectual or development disability, and puffy feet and hands (in infants) are other symptoms.

• #9 Noonan Syndrome (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/noonan-syndrome.html

  Noonan syndrome is a condition that some babies are born with. It causes changes in the face and chest, usually includes heart problems, and slightly raises a child’s risk of blood cancer (leukemia). […] Most children with Noonan syndrome have differences in the shape of their face and head. These are noticeable at birth and include: wide-set pale blue or blue-green eyes, thick, low-set ears, a thickened philtrum (the pair of ridges between the nose and the mouth), loose skin on the neck or a short and broad neck, a sunken breastbone (pectus excavatum) or bulging breastbone (pectus carinatum), boys: testes in the belly, not in the scrotum (undescended testicles). […] They may also have heart problems including: pulmonic valve stenosis: when the pulmonary valve is too small, narrow, or stiff. (This valve is between the right ventricle and the pulmonary artery.), heart rhythm problems: when an ECG (heart rhythm tracing) shows that the heart is not beating regularly.

• #10 Noonan syndrome | healthdirect

  https://www.healthdirect.gov.au/noonan-syndrome

  Noonan syndrome is a rare genetic condition present from birth. Young children with Noonan syndrome have facial features, for example: drooping eyelids, flat nose bridge, and low ears. People with Noonan syndrome can also have heart, digestive or other health problems. […] Children with Noonan syndrome can have symptoms including characteristic facial features and health problems. They are often shorter than expected for their age. Adults may also be short in stature. […] Classic facial features of Noonan syndrome are easier to recognise in young children. They are less noticeable as children get older and reach adulthood. These features include: drooping or hooded eyelids, bright blue or blue-green eyes that slope or are widely spaced, a flat nose bridge, strongly arched (diamond-shaped) eyebrows, low-set ears that tilt back, coarse, curly hair with a low hairline at the neck, a short neck with extra skin folds at the back.

• #11 Noonan Syndrome: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/noonan-syndrome

  Noonan syndrome is a rare genetic disorder that affects the development of many areas of the body. Some signs are noticeable at birth, and others become more apparent as a child grows. Most people with Noonan syndrome are shorter than average and have distinctive facial features, heart problems, and other signs and symptoms. Noonan syndrome affects individuals differently and can range from mild to severe symptoms. […] The symptoms of Noonan syndrome vary widely from person to person. Its possible to have only a few mild signs or many symptoms of different severity. […] Wide-set eyes, usually blue or pale green. Drooping upper eyelids. Low-set ears rotated backward. Low hairline in the back. Extra folds of skin on the neck. Short stature. Breastbone (chest) is either sunken or protruding.

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

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

  Noonan syndrome is a genetic disorder that prevents normal development of various parts of the body. The cardinal features of Noonan syndrome include unusual facies (ie, hypertelorism, down-slanting eyes, webbed neck), congenital heart disease, short stature, and chest deformity. Approximately 25% of individuals with Noonan syndrome have intellectual disability. Bleeding diathesis is present in as many as half of all patients with Noonan syndrome. Skeletal, neurologic, genitourinary, lymphatic, eye, and skin findings may be present to varying degrees. […] Symptoms of Noonan syndrome vary in severity but may include the following: Characteristic facial features affecting the eyes, ears, nose, mouth, head shape, and skin; Congenital heart defects – Valve disorders, hypertrophic cardiomyopathy, ventricular septal defect; Growth insufficiencies, short stature in adulthood; Musculoskeletal issues; Learning disabilities; Eye and eyelid abnormalities; Hearing deficits; Bleeding issues; Lymphatic issues; Genital and renal issues; Skin issues. […] Treatment is focused on the symptoms of Noonan syndrome and may include cardiac therapy, growth hormone therapy, physical and speech therapy, ophthalmologic treatment, management of bleeding disorders, treatment of lymphatic problems, and urologic therapy (in males).

• #13 Noonan syndrome: MedlinePlus GeneticsLock

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

  Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. […] People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum), widely spaced eyes that are usually pale blue or blue-green in color, and low-set ears that are rotated backward. […] Between 50 and 70 percent of individuals with Noonan syndrome have short stature. At birth, they are usually a normal length and weight, but growth slows over time. […] 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).

• #14

  https://111.wales.nhs.uk/Noonansyndrome/

  Noonan syndrome is a genetic condition that can cause a wide range of distinctive features and health problems. […] The most common features of Noonan syndrome are: unusual facial features, such as a broad forehead, drooping eyelids and a wider-than-usual distance between the eyes; short stature (restricted growth); heart defects (congenital heart disease). […] Noonan syndrome can affect a person in many different ways. Not everyone with the condition will share the same characteristics. […] The 3 most common characteristics of Noonan syndrome are: unusual facial features; short stature (restricted growth); heart defects present at birth (congenital heart disease). […] People with Noonan syndrome may have a characteristic facial appearance, although this isn’t always the case. […] The following features may become apparent soon after birth: a broad forehead; drooping eyelids (ptosis); a wider-than-usual distance between the eyes; a short, broad nose; low-set ears that are rotated towards the back of the head; a small jaw; a short neck with excess skin folds; a lower-than-usual hairline at the back of the head and neck.

• #14

  https://111.wales.nhs.uk/Noonansyndrome/

  Children with Noonan syndrome are usually a normal length at birth. However, at around 2 years old you may notice that they don’t grow as quickly as other children of the same age. […] Puberty (when a child begins to mature physically and sexually) typically occurs a few years later than normal, and the expected growth spurt that usually happens during puberty is either reduced or doesn’t happen at all. […] Most children with Noonan syndrome will have some form of congenital heart disease. […] Other less common characteristics of Noonan syndrome can include: learning disability; feeding problems; behavioural problems; increased bruising or bleeding; eye conditions; hypotonia; undescended testicles; infertility; lymphoedema; bone marrow problems. […] A variety of different tumours (cancerous growths) have also been found in people with Noonan syndrome, but it’s often not clear if these are caused by the condition or occur by chance. […] Overall, the risk of developing cancer doesn’t appear to be much higher than for people without Noonan syndrome, although there may be a very small increased risk of some rare childhood cancers.

• #15 Noonan syndrome | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/noonan-syndrome/

  Symptoms of Noonan syndrome vary greatly and range from mild to severe. These symptoms may be related to the specific gene containing the change. […] Noonan syndrome may include these features: Eyes are wide-set, slant down and have droopy lids. Eyes may be pale blue or green. Ears are set low and look like they’re tipped backward. Nose is depressed at the top, with a wide base and round tip. Mouth has a deep groove between the nose and the mouth and wide peaks in the upper lip. The crease that runs from the edge of the nose to the corner of the mouth becomes deeply grooved with age. Teeth may be crooked. The inside roof of the mouth may be highly arched. And the lower jaw may be small. Facial features may appear coarse but look sharper with age. The face may appear droopy and not show expression. Head may be large with a big forehead and a low hairline on the back of the head. Skin may appear thin and transparent with age.

• #16 Noonan Syndrome: Causes, Symptoms, and Treatment Options

  https://ckbirlahospitals.com/rbh/blog/noonan-syndrome

  Noonan syndrome symptoms differ from mild to dangerous and depending on the child’s body part it has affected the most. Usually, symptoms begin to grow when the fetus is growing in the uterus or when the child is 11. Here are some symptoms on the face that are easily noticeable: A profound groove in the upper lip, Tall forehead, Eye color changes in blue or green, Ptosis or drooping eyelids, Flat nose having a wide base and bulging tip, Downward-slanting eyes, Low-set ears. […] There are other common symptoms that are noticeable physically: Short neck having low hairline and additional skin folds, Finger pads or bulging toes, Pectus excavatum, Abnormally shaped nails, Short stature. […] Children having Noonan syndrome also have heart conditions like congenital heart disease. Hence, on-time treatment is required to treat the problem. Children with Noonan syndrome develop heart-related symptoms gradually which include: Pulmonary artery stenosis, Heart muscle thickening, Atrial septal defect. […] Some children also experience other symptoms like: Developmental delays, Trouble feeding children, Accumulation of fluid in the hands or feet, Breathing problems, Bleeding or bruising, Undescended testicles, Scoliosis or a curved spine, Birth disorders, Vision issues, Hearing loss.

• #17 Noonan syndrome

  https://dermnetnz.org/topics/noonan-syndrome

  Noonan syndrome is characterised by: A distinctive facial appearance, Short stature, Chest deformity, Congenital heart disease. […] Noonan syndrome presents with distinctive facial features, such as: A deep philtrum (groove between the nose and mouth), Hypertelorism (widely spaced eyes), Low-set ears rotated backwards, High arched palate, Poor teeth alignment, Micrognathia (small lower jaw). […] Other clinical manifestations of Noonan syndrome include: A webbed neck, A short neck/low posterior hairline, Pectus excavatum (sunken sternum) or pectus carinatum (protruding sternum), Scoliosis (abnormal lateral curvature of the spine), Lymphoedema, Bleeding disorders, Hypogonadism (impaired gonad function that can lead to insufficient production of sex hormones). […] Congenital heart disease is common in most cases of Noonan syndrome, with the most common defect being pulmonary valve stenosis. […] Hypertrophic cardiomyopathy is common in individuals with critical congenital pulmonary valve stenosis. […] Individuals with Noonan syndrome have an eight-fold increased risk of developing haematological malignancies, the most common being leukaemia.

• #18 Noonan syndrome

  https://johnsonmemorial.org/jmh-health/disease-conditions/con-20199570

  Symptoms of Noonan syndrome vary greatly and range from mild to severe. These symptoms may be related to the specific gene containing the change. […] Noonan syndrome may include these features: Eyes are wide-set, slant down and have droopy lids. Eyes may be pale blue or green. Ears are set low and look like they’re tipped backward. Nose is depressed at the top, with a wide base and round tip. Mouth has a deep groove between the nose and the mouth and wide peaks in the upper lip. The crease that runs from the edge of the nose to the corner of the mouth becomes deeply grooved with age. Teeth may be crooked. The inside roof of the mouth may be highly arched. And the lower jaw may be small. Facial features may appear coarse but look sharper with age. The face may appear droopy and not show expression. Head may be large with a big forehead and a low hairline on the back of the head. Skin may appear thin and transparent with age.

• #19 Noonan Syndrome – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/chromosome-and-gene-abnormalities/noonan-syndrome

  Children may have webbing of the neck, low-set ears, droopy eyelids, widely spaced eyes, shortened fourth (ring) fingers, a high-arched palate, and heart abnormalities. Hearing problems can occur, and intelligence may be impaired. Most affected people are short. […] Boys may have underdeveloped or undescended testes. Puberty may be delayed for both boys and girls, and young men with Noonan syndrome may have low levels of testosterone and be infertile. Girls usually begin menstruating somewhat later than unaffected girls, but fertility is typically normal.

• #20 Noonan syndrome | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/noonan-syndrome/

  Many people with Noonan syndrome are born with a heart problem that causes some of the key symptoms of the condition. This is called congenital heart disease. Also, some heart problems can occur later in life. […] Noonan syndrome can affect typical growth. Many children with Noonan syndrome do not grow at a typical rate. […] Some common issues can include: A condition called pectus excavatum, where the breastbone and ribs sink too far into the chest. It also is possible to have pectus carinatum, where the breastbone and ribs grow outward, making the chest stick out more than usual. Nipples that are wide apart. Short neck, often with extra folds of skin, called a webbed neck. A spine that has an unusual curve. […] Noonan syndrome does not affect the intelligence of most people who have the condition. But they may have: A higher risk of learning disabilities and mild intellectual disability. A wide range of mental, emotional and behavioral issues that are usually mild. Hearing and vision problems that may make it harder to learn.

• #21 Noonan syndrome: Causes, symptoms, and management

  https://www.medicalnewstoday.com/articles/179200

  Noonan syndrome is a genetic disorder that is present from birth. It involves a variety of distinguishing features and health issues. […] It is often associated with congenital heart disease, short stature, and unusual facial features. […] The signs and symptoms associated with Noonan syndrome vary greatly from person to person. They can be mild, moderate, or severe and may vary depending on the gene at fault. However, there are a number of common signs and symptoms. […] This is one of the most obvious signs of Noonan syndrome, and this is a key consideration in diagnosis. […] The most common features of Noonan syndrome are: Wide-set eyes, Drooping eyelids, Pale irises, Large head, Broad forehead, A short, broad nose, Drooping face that appears to lack expression, A small jaw, A short neck, Excess skin on the neck, Ears that are low-set and turned toward the back of the head.

• #22 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. […] Common features of the condition include congenital heart disease, short stature, distinctive facial features, bleeding disorders and learning disabilities. While these features are common, none of them occur 100% of the time. The presentation is variable, and a person with Noonan syndrome may not have every feature. […] It is estimated that 50-80% of individuals with Noonan syndrome have a congenital heart defect. The most common heart defect seen is pulmonary valve stenosis, which is a narrowing in the valve attached to the blood vessel that carries blood out of the heart to the lungs. Other types of congenital heart defects are also seen in patients with Noonan syndrome, including septal defects (hole in the heart) and Tetralogy of Fallot.

• #23 Noonan syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Noonan_syndrome

  Noonan syndrome is the second most common syndromic cause of congenital heart disease. 50-70% of individuals with NS are born with some form of congenital heart defect, with pulmonary valvular stenosis being the most common (50-60%). Other heart defects include hypertrophic cardiomyopathy (12-35%), ventricular septal defects (5-20%), and atrial septal defects (10-25%). […] The lifespan of people with Noonan’s syndrome can be similar to the general population, however, Noonan syndrome can be associated with several health conditions that can contribute to mortality. The greatest contributor to mortality in individuals with Noonan syndrome is complications of cardiovascular disease. Prognosis is therefore largely dependent on the presence or absence of cardiac disease, as well as the type and severity of the disease (if disease is present). Most notably, Noonan syndrome with hypertrophic cardiomyopathy is associated with increased mortality.

• #24 Noonan syndrome and congenital heart conditions

  https://www.aboutkidshealth.ca/noonan-syndrome-and-congenital-heart-conditions

  Noonan syndrome can affect different parts of the body. Individuals with Noonan syndrome may have only a few or many of the physical or developmental differences listed below: […] About 80% of Noonan syndrome cases involve a heart condition. […] Patients with heart conditions may require a heart intervention or surgery, depending on the symptoms and severity of the condition. […] Pulmonary valve stenosis is the most common heart condition associated with Noonan syndrome, seen in up to 70% of cases. […] In most cases this pulmonary valve narrowing is only mild and will not cause your child to have any symptoms or to require any intervention. […] Less frequently, the pulmonary valve narrowing may be moderate or severe. These cases might require a cardiac intervention or a surgery. […] Other heart defects may occur in Noonan syndrome patients, although this is less common.

• #25 Noonan Syndrome | Symptoms, Diagnosis & Treatment

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

  Hypertrophic cardiomyopathy, a heart muscle disease, is found in around 20% of patients with Noonan syndrome. This may be present at birth or develop later. […] Many individuals with Noonan syndrome have short stature. It is common for height and weight to be below the third percentile on a typical growth chart. […] Puberty is often delayed in individuals with Noonan syndrome. […] Delay in reaching early developmental milestones is common for individuals with Noonan syndrome. Feeding difficulties are also common during infancy. […] Around 25% of individuals have learning disabilities, and some require a special education classroom setting. The average IQ tends to be lower than other family members who do not have Noonan syndrome. […] Noonan syndrome is a lifelong disorder. Identification and treatment of all associated medical complications is important. Prognosis in terms of life expectancy generally depends on the severity of any heart defect.

• #26 Noonan syndrome with multiple lentigines: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/noonan-syndrome-with-multiple-lentigines/

  Of the people with Noonan syndrome with multiple lentigines who have heart defects, about 80 percent have hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood. […] People with Noonan syndrome with multiple lentigines can have a distinctive facial appearance. In addition to ocular hypertelorism, affected individuals may have droopy eyelids (ptosis), thick lips, and low-set ears. […] At birth, people with Noonan syndrome with multiple lentigines are typically of normal weight and height, but in some, growth slows over time. This slow growth results in affected individuals being shorter than average, although less than half of people with Noonan syndrome with multiple lentigines have significantly short stature. […] Other signs and symptoms of Noonan syndrome with multiple lentigines include hearing loss caused by abnormalities in the inner ear (sensorineural deafness), mild intellectual disability, and extra folds of skin on the back of the neck. Affected males often have genital abnormalities, which can include undescended testes (cryptorchidism) and a urethra that opens on the underside of the penis (hypospadias). These abnormalities may reduce the ability to have biological children (decreased fertility). Females with Noonan syndrome with multiple lentigines may have poorly developed ovaries and delayed puberty.

• #27 Noonan Syndrome: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/noonan-syndrome

  Valve disorders, commonly pulmonary valve stenosis. Thickened heart muscle, called hypertrophic cardiomyopathy. Other malformations of the heart. […] Easy bruising. Nosebleeds. Prolonged bleeding after injury or surgery. […] Delayed puberty. Undescended testicles in males. Special educational needs. Vision problems. Fluid build-up (lymphedema) of extremities. […] Complications of Noonan syndrome change as a child grows, goes through puberty, and becomes an adult. They vary from person to person and may need lifelong monitoring. […] Heart problems may be diagnosed at birth or later. They often need to be corrected with surgery, and they need attention throughout life. […] Most children with Noonan syndrome have normal intelligence, yet they may also have developmental delays that can be addressed with physical, occupational, and speech therapy.

• #28

  https://111.wales.nhs.uk/encyclopaedia/n/article/noonansyndrome/

  Most children with Noonan syndrome will have some form of congenital heart disease. This is usually one of the following: pulmonary stenosis, hypertrophic cardiomyopathy, or septal defects. […] Other less common characteristics of Noonan syndrome can include learning disability, feeding problems, behavioural problems, increased bruising or bleeding, eye conditions, hypotonia, undescended testicles, infertility, lymphoedema, and bone marrow problems. […] Overall, the risk of developing cancer doesn’t appear to be much higher than for people without Noonan syndrome, although there may be a very small increased risk of some rare childhood cancers.

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

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

  Hearing problems: hearing loss (specifically, sensorineural deafness) […] Cardiovascular issues: pulmonic stenosis (heart valve issue), irregular heart rhythm, atrial or ventricular septal defects, hypertrophic cardiomyopathy (thickening of the heart muscle) […] Other issues, such as: […] Musculoskeletal issues: atypical curvature of the spine (kyphosis, scoliosis), abnormalities of the breastbone or elbows […] Blood issues: blood clotting problems leading to increased bruising/bleeding, atypical white blood cell count […] Lymphatic conditions: lymphedema (buildup of fluid in the lymphatic system) […] Reproductive issues: undescended testes and infertility in males […] Kidney conditions: absence of a kidney, for example […] Skin conditions: loose skin on neck, thick skin on palms of hands, benign tumors on the skin, black/brown spots on the skin (lentigines are similar to liver spots)

• #30 Noonan Syndrome | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/noonan-syndrome/

  Noonan syndrome is a genetic disorder that affects the whole body, including the heart, blood vessels, skeletal system, eyes, ears and brain. […] Noonan syndrome in a child can affect their heart by causing hypertrophic cardiomyopathy (thickening of the heart muscle), abnormalities of the heart valves including pulmonary valve stenosis and dilation of the aorta (the large vessel that carries oxygen to the body). Some children with Noonan syndrome can also have arrhythmia (abnormal heart rhythms) or have a problem with chylothorax (accumulation of lymphatic fluid in and around the lungs or abdomen). […] In some cases, children with Noonan syndrome have more complex congenital heart disease that can require surgery in infancy or early childhood. […] The most noticeable signs are a short stature, a heart murmur and differences in facial features. Other Noonan syndrome signs and symptoms include: Congenital heart defects such as pulmonary valve stenosis, hypertrophic cardiomyopathy.

• #31 Noonan Syndrome | Lurie Children’s

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

  Noonan syndrome is typically diagnosed in infancy or childhood. The specific features each person has can be different, even within the same family. Below is a summary of the most common features seen in 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. Congenital heart defects can lead to a shortened life span. […] Although some children may have more serious health issues than other, most children with Noonan syndrome meet their developmental milestones. As adults, most people with Noonan syndrome function well. […] 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.

• #32 What Is the Life Expectancy of Someone With Noonan Syndrome?

  https://www.medicinenet.com/life_expectancy_of_someone_with_noonan_syndrome/article.htm

  The long-term prognosis of people with Noonan syndrome is variable. […] There is a wide range in the severity of signs and symptoms in people with Noonan syndrome (NS). Therefore, the prognosis (long-term outlook) of this disease may vary in every case. […] Although most people reach adulthood, the risk of blood cancer is higher in these individuals than in the normal population. These kids may also have heart defects, the most common being pulmonic stenosis. […] In the absence of a large, longitudinal study, reliable information about long-term morbidity and mortality is lacking. However, those with heart failure around two years of age have a poor chance of living a long life. […] The life expectancy of a person with NS is likely to be normal if serious heart defects are absent. About 50% of people with NS have a heart defect since birth such as a hole in the heart (patent ductus arteriosus), heart valve hardening (stenosis), etc. […] Some affected children may also have other ongoing health problems such as problems urinating, blood disorders, etc. However, with special care and counselling, the majority of children with NS grow up and function normally as adults.

• #33 Noonan Syndrome – EyeWiki

  https://eyewiki.org/Noonan_Syndrome

  Noonan syndrome (NS) is a genetic disorder characterized by unusual facial features, short stature, heart defects and can present with visual loss including optic nerve hypoplasia or cavitary disc anomalies (e.g., optic disc coloboma). Patients may also have strabismus or neurologic manifestations (e.g. Chiari malformation). […] Key ocular findings in NS are listed below. As noted, visual impairment may be permanent. […] The prognosis in NS varies greatly, ranging from patients who die prenatally to those who live a normal lifespan with few medical complications. However, fortunately, despite developmental difficulties, the majority of patients can ultimately function normally as adults. The data suggests that a diagnosis of hypertrophic cardiomyopathy before age 2 is associated with the highest risk of cardiac death. However further studies are needed to determine overall long-term prognosis.

• #34 Characteristics/Symptoms | New England Regional Genetics Network

  https://www.negenetics.org/gemss/conditions/noonan-syndrome/resources/characteristics-symptoms

  Not all people with Noonan syndrome will have all of these features. […] Congenital heart defect (50-80%) […] Most common deficit is pulmonary valve stenosis. […] Hypertrophic cardiomyopathy occurs in 20%. […] Lifetime cardiac follow-up is important for all. […] Short stature (50-70%) […] Final adult height approaches lower limit of normal. […] Developmental delay (variable) […] Increase in learning disabilities. […] Increase in brain differences […] Wide array of neurologic problems. […] Seizures possible. […] Speech articulation difficulties in 72%. […] Physical differences […] Broad neck or extra tissue at back of neck. […] Unusual shape to the chest […] prominence at the top of the breast bone and sunken area at the bottom. […] Nipples wide spaced and low set.

• #35 Noonan syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1781428/

  Signs and symptoms lessen with age and most adults with NS do not require special medical care. […] Weight and length are usually normal at birth. Birth weight can be high due to subcutaneous oedema. In such cases, marked weight loss occurs in the first week of life. Neonatal feeding difficulties and failure to thrive are present in 63% of patients. In general, these feeding problems resolve spontaneously later in infancy. Mean prepubertal growth parallels the 3rd centile for height and weight. Onset of puberty is delayed by approximately two years and the pubertal growth spurt is often reduced or absent. The average bone age is also delayed by two years. Mean adult height is 162.5 cm in males and 152.7 cm in females. […] Characteristic chest deformities consist of pectus carinatum superiorly and pectus excavatum inferiorly. These sternal abnormalities are present in 70%95% of cases.

• #36

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

  Noonan syndrome can affect a person in many different ways. Not everyone with the condition will share the same characteristics. […] The 3 most common characteristics of Noonan syndrome are: unusual facial features, short stature (restricted growth), heart defects present at birth (congenital heart disease). […] Children with Noonan syndrome are usually a normal length at birth. However, at around 2 years old you may notice that they don’t grow as quickly as other children of the same age. […] Puberty (when a child begins to mature physically and sexually) typically occurs a few years later than normal, and the expected growth spurt that usually happens during puberty is either reduced or doesn’t happen at all. […] Most children with Noonan syndrome will have some form of congenital heart disease. […] Other less common characteristics of Noonan syndrome can include: learning disability, feeding problems, behavioural problems, increased bruising or bleeding, eye conditions, hypotonia, undescended testicles, infertility, lymphoedema, bone marrow problems, kidney problems.

• #37 FAQs • Noonan Syndrome Association

  https://www.noonansyndrome.org.uk/faqs/

  The age at onset of puberty is often delayed and short stature is common in Noonan syndrome, although adult height is not always affected. In boys there may be problems with the testicles descending (cryptorchidism) and reduced fertility in adult life. […] The average age of the onset of puberty is delayed in people with Noonan syndrome compared with the general population: 35% of boys enter puberty after the age of 13 years; 44% of girls enter puberty after the age of 13 years. […] In a significant number of boys with Noonan syndrome one or both testes may fail to descend into the scrotum (cryptorchidism). This should be corrected by early surgery which helps to reduce the incidence of fertility problems with lower sperm counts later. […] At birth, the baby’s weight and body length are usually normal. But as the growth spurt that comes with puberty is often delayed or longer, short stature is common during the age of normal puberty. The adult height of people with Noonan syndrome is not always affected but on average it is reduced.

• #38 Noonan syndrome: Causes, symptoms, and management

  https://www.medicalnewstoday.com/articles/179200

  Noonan syndrome may involve growth and developmental issues. […] Some people with Noonan syndrome reach normal height by adulthood, but the average height is 5 feet and 3 inches for men with the condition, and 5 feet for women. […] Most people with Noonan syndrome have some form of congenital heart disease. […] A variety of other issues can arise. […] Some children experience feeding difficulties as it is harder for them to suck and chew. […] Learning difficulties sometimes occur. Intelligence is not normally affected, but some people may have learning difficulties or mild intellectual disabilities. […] Decreased muscle tone may cause developmental milestones to be reached later than expected. […] According to the National Center for Advancing Translational Sciences, people with Noonan syndrome have a threefold higher mortality rate than the general population.

• #39 Characteristics/Symptoms | New England Regional Genetics Network

  https://www.negenetics.org/gemss/conditions/noonan-syndrome/resources/characteristics-symptoms

  Strabismus/crossed eyes. […] Refractive errors. […] Amblyopia (lazy eye). […] Nystagmus (rhythmic movement of the eyes from side to side). […] Renal (kidney) abnormalities […] Present in about 11% and are generally minor. […] Kidney swelling is most common. […] Puberty may be delayed […] Male puberty and fertility may be normal, delayed (about age 13.5-14.5), or inadequate. […] Female puberty may be delayed […] Mean age of first period is 13-14 years. […] Normal fertility typically.

• #40 Noonan syndrome: MedlinePlus GeneticsLock

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

  A variety of bleeding disorders have been associated with Noonan syndrome. Some affected individuals have excessive bruising, nosebleeds, or prolonged bleeding following injury or surgery. […] Adolescent males with Noonan syndrome typically experience delayed puberty. […] Most males with Noonan syndrome have undescended testes (cryptorchidism), which may contribute to infertility (inability to father a child) later in life. […] Some people with Noonan syndrome develop cancer, particularly those involving the blood-forming cells (leukemia). It has been estimated that children with Noonan syndrome have an eightfold increased risk of developing leukemia or other cancers over age-matched peers.

• #41 Noonan syndrome

  https://johnsonmemorial.org/jmh-health/disease-conditions/con-20199570

  Noonan syndrome can cause hearing problems due to nerve issues or an inner ear bone structure that is not typical. […] Noonan syndrome can cause bleeding problems and easy bruising. That’s because the blood of some people with Noonan syndrome may not clot properly and may have low levels of proteins that are needed for clots to form. So they bleed longer than usual. […] Noonan syndrome can cause problems with the lymphatic system, which drains excess fluid from the body and helps fight infection. […] Many people with Noonan syndrome have problems with their genitals and kidneys: It’s common for males with Noonan syndrome to have undescended testicles. These are testicles that have not moved into proper position in the bag of skin hanging below the penis, called the scrotum. […] People with Noonan syndrome may have skin conditions. They may have various problems that affect the color and texture of the skin. They also may have coarse or sparse hair.

• #42 Noonan Syndrome: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/noonan-syndrome

  Males with Noonan syndrome may experience delayed puberty and decreased fertility. In up to 75 percent of males, one or both testes fail to descend by the first year of life. Even if this is corrected surgically, they may experience infertility. […] People with Noonan syndrome can have a range of problems with blood clotting. Its important to be aware of these before surgery, and extra care may be needed during visits to the dentist. […] A fluid called lymph may cause swelling of the lower legs and ankles or collect around the heart and lungs. […] Children with Noonan syndrome have an eightfold increased risk of developing leukemia or other cancers.

• #43 Noonan syndrome | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/noonan-syndrome

  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; 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; anticonvulsant medication if your child experiences seizures; speech therapy; special education; 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.

• #43 Noonan syndrome | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/noonan-syndrome

  Noonan syndrome is a genetic condition that typically includes heart abnormalities and characteristic facial features. About one-third of affected children have mild intellectual disability. Noonan syndrome varies from relatively mild to severe. The physical characteristics are not always obvious and can be hard to identify in individuals with more subtle traits. […] Currently there is no cure, but symptoms of Noonan syndrome can be medically managed. Your child’s 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. […] Up to 35 per cent of people with Noonan syndrome will have a mild intellectual disability, but most people will be unaffected. People who experience intellectual disability with Noonan syndrome may also experience developmental delays with their speech, language and coordination. They may also exhibit some mild emotional and behavioural issues.

• #44 FAQs • Noonan Syndrome Association

  https://www.noonansyndrome.org.uk/faqs/

  If growth is significantly delayed it may be helpful to have a referral to a specialist paediatric endocrinologist. […] Most children with Noonan syndrome will get an increase in height from the treatment which may be very helpful in boosting the child’s self-confidence. However there is still some debate about how effective the growth hormone treatment is in increasing the final height. […] Other growth-related issues include spinal deformity, chest deformities (pigeon chest or a sunken chest), widely spaced nipples, forearms that angle away from the body to a greater degree than normal when fully extended (cubitus valgus), and knock knees.

• #45 Noonan syndrome – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/symptoms-causes/syc-20354422

  Noonan syndrome can affect typical growth. Many children with Noonan syndrome do not grow at a typical rate. […] Some common issues can include: A condition called pectus excavatum, where the breastbone and ribs sink too far into the chest. It also is possible to have pectus carinatum, where the breastbone and ribs grow outward, making the chest stick out more than usual. […] Noonan syndrome does not affect the intelligence of most people who have the condition. But they may have: A higher risk of learning disabilities and mild intellectual disability. […] Noonan syndrome can cause hearing problems due to nerve issues or an inner ear bone structure that is not typical. […] Noonan syndrome can cause bleeding problems and easy bruising. That’s because the blood of some people with Noonan syndrome may not clot properly and may have low levels of proteins that are needed for clots to form. So they bleed longer than usual.

• #46 Characteristics/Symptoms | New England Regional Genetics Network

  https://www.negenetics.org/gemss/conditions/noonan-syndrome/resources/characteristics-symptoms

  Rounded shoulders. […] Spinal abnormalities […] Scoliosis (10-15%). […] Less common spinal differences such as kyphoscoliosis (hunchback), spina bifida, and changes in vertebrae and ribs. […] Clubfoot 10-15%. […] Ability to hyperextend at the elbow […] Abnormal forearm angles found in 1/2 males and females. […] may have leg pain. […] Facial features […] Low set ears. […] Pale blue or blue green irises […] Iris typically lighter in color. […] Wide spaced eyes with epicanthal folds (extra fold at the inner part of the eye lid) and thick or droopy eyelids. […] Lack of affect or expression. […] Skin differences […] Problems affecting color and texture of the skin […] Lotions or short courses of topical steroids help dry skin. […] Avoid long hot baths, perfumed soaps, and dry atmosphere.

• #47

  https://scolination.com/blogs/home-care/managing-scoliosis-in-noonan-syndrome-symptoms-treatment

  Noonan syndrome is a genetic condition that can cause a variety of symptoms, including scoliosis. […] Individuals with Noonan syndrome have a higher chance of developing scoliosis, highlighting the importance of early identification and intervention. […] Several types of scoliosis can occur in individuals with Noonan syndrome, each presenting with varying degrees of curvature. The symptoms of scoliosis often overlap with those of Noonan syndrome, making it crucial to differentiate the two. […] Early diagnosis of scoliosis is crucial, particularly for individuals with Noonan syndrome. […] Early identification of scoliosis allows for timely intervention and can prevent the condition from worsening, improving long-term outcomes for individuals with Noonan syndrome. […] Back pain, though not always present, can be a significant indicator of scoliosis, especially as the curvature progresses.

• #48 Azthena logo with the word Azthena

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

  Noonan syndrome is a condition notable both for its frequent occurrence and phenotypic variability. The principal features of Noonan syndrome are short stature, characteristic facial appearance that changes with age, congenital heart defects, webbed or broad neck, pectus deformity and mild intellectual handicap in some instances. […] Cardiac abnormalities can be found in over 80% of patients with Noonan syndrome, and pulmonary valve stenosis with dysplastic leaflets is the most frequently observed cardiac lesion. […] Hypertrophic obstructive cardiomyopathy with asymmetrical septum hypertrophy occurs in approximately 20% of patients. […] More than 90% of patients with Noonan syndrome have pectus excavatum or pectus carinatum with subsequent shield-like chest deformity. […] Infants with Noonan syndrome generally exhibit a delay in early developmental milestones; the average age of sitting is at 10 months of age, while walking and talking occur closer to 2 and 2.5 years of age, respectively. […] As mentioned before, short stature represents one of the cardinal features of Noonan syndrome, although adult height is not always adversely affected.

• #49 Noonan syndrome – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/symptoms-causes/syc-20354422

  Noonan syndrome can cause problems with the lymphatic system, which drains excess fluid from the body and helps fight infection. […] Many people with Noonan syndrome have problems with their genitals and kidneys: It’s common for males with Noonan syndrome to have undescended testicles. […] People with Noonan syndrome may have skin conditions. They may have various problems that affect the color and texture of the skin. They also may have coarse or sparse hair. […] Complications from Noonan syndrome can arise that may need attention, including: Developmental delays. Children with Noonan syndrome may be slow to develop compared with other children their age.

• #49 Noonan syndrome – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/symptoms-causes/syc-20354422

  Noonan syndrome is a genetic condition that stops typical development in various parts of the body. It can affect a person in several ways, including unusual facial features, short height, heart problems and other physical problems. It also can cause a child to develop more slowly than usual, for example, in walking, talking or learning new things. […] Symptoms of Noonan syndrome vary greatly and range from mild to severe. These symptoms may be related to the specific gene containing the change. […] How the face looks is one key feature that leads to a diagnosis of Noonan syndrome. Facial features may be easier to see in infants and young children but change with age. These distinct features become less clear in adults. […] Many people with Noonan syndrome are born with a heart problem that causes some of the key symptoms of the condition. This is called congenital heart disease. Also, some heart problems can occur later in life.

• #50 Noonan syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1781428/

  In general, children with NS demonstrate mild motor delay, which may be partly attributed to the muscular hypotony that is often present in early childhood. Mean age for sitting is 10 months, that for walking alone is 21 months, and that for talking is 31 months. Mental retardation is present in 15%35% of cases and is usually mild. […] New medical problems are not expected to appear in adulthood. However, males who were born with undescended testes may have fertility problems. There is no evidence for gynaecological or childbearing complications in females with NS. Some patients have health problems as a consequence of their congenital heart defect, lymphatic vessel dysplasia, urinary tract malformation, haematological disorder, or other anomaly associated with NS.

• #51 Noonan Syndrome (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/noonan-syndrome.html

  The symptoms of Noonan syndrome can be mild to severe. Two children with Noonan syndrome may have completely different symptoms and skills. […] Other differences as the child grows might include: starting to walk, talk, and other things later than most children, vision and hearing problems, learning and language problems, slow growth, short height, easy bruising and bleeding a lot (from periods, nosebleeds, cuts, etc.), late puberty. […] As they grow into adulthood, most children with Noonan syndrome have: a final adult height near the lower end of the average range, heart problems that may get worse, so they need to see a heart specialist regularly, a slightly higher risk of getting leukemia, a life expectancy that usually depends on how well their heart is working.

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

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

  Noonan syndrome may also cause: Breathing issues, such as laryngomalacia. A buildup of fluid in the hands or feet (lymphedema). Developmental delays. Excessive bleeding or bruising. Feeding difficulties (in infants). Testicles that don’t drop (undescended testicles), which can cause fertility issues if not treated. A curved spine (scoliosis). Vision problems or hearing loss. Birth disorders involving the kidneys. […] 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. […] 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.

• #53 Noonan Syndrome – Causes Symptoms And Treatment | Apollo Hospitals

  https://www.apollohospitals.com/diseases-and-conditions/noonan-syndrome/

  Noonan syndrome is a genetic disorder that prevents the normal development of various body parts. […] The symptoms of Noonan syndrome vary greatly, […] Change in facial features is one of the most visible symptoms. These include: […] Many people who are diagnosed with Noonan syndrome also face growth issues, such as, […] Some of the other conditions seen in people suffering from Noonan syndrome are, […] Noonan syndrome requires good care and treatment. If left unattended, it can result in the following complications: […] Noonan syndrome is a genetic condition that is present from birth. People with Noonan syndrome have three times the higher mortality rate. It requires proper care and attention. […] The symptoms of Noonan syndrome vary greatly. They differ from mild to severe. […] Noonan syndrome can affect a person physically and mentally. In severe cases, it can hamper visual processing, memory, communication, learning capacity, etc.

• #54 Noonan Syndrome – Causes, Symptoms, Diagnosis and Treatment

  https://www.medindia.net/health/conditions/noonan-syndrome.htm

  Issues with the eyes such as strabismus or squint in up to 90 percent of people suffering the disease. […] Bleeding problems such as increased tendency to bleed from wounds, abnormal menstruation, nosebleeds, bruises or cuts which fail to heal. […] A varying shape of the chest with widely spaced and low set nipples called pectus excavatum. Problems in breathing due to structural alterations in the rib cartilage. […] Undescended testes in case of males, which may be related to delayed puberty or to infertility (inability to produce enough sperms to make a child) later in life. Adolescent males with Noonan syndrome typically experience a delay in the puberty. Males generally attain puberty by age 13 to 14 years. Affected females are spared from the issue of delayed puberty. […] Early milestones are often delayed, with low muscle tone and joint laxity contributing to a part of the motor system delay. […] The incidence of attention deficit hyperactivity disorder (ADHD) is reported to be higher in children with Noonan syndrome compared to the unaffected ones.

• #55 Orphanet: Noonan syndrome

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

  A rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood. […] NS typically presents in the neonatal period with feeding difficulties and failure to thrive. Characteristic facial features are often more obvious in infancy: high broad forehead, hypertelorism, palpebral ptosis and downward slanting palpebral fissures, low-set, thick, posteriorly rotated ears, deep philtrum, micrognathia, curly hair and a short neck with sometimes a pterygium colli. With age, the face becomes triangular, with marked skinfolds. The most common congenital heart defect is pulmonary valve stenosis (50-60%) with pulmonic valve dysplasia and various types of cardiac malformations (atrial septal defects, ventricular septal defects ect.). Hypertrophic cardiomyopathy of antenatal onset is common (20%) and may be stable or rapidly progressive. Dilation of coronary arteries and moya-moya disease may develop with aging. Growth delay affects 50%, uncommonly associated with growth hormone deficiency. Weight gain is difficult and many patients remain lean throughout life. Major orthopedic manifestations include sternal deformity, talipes equinovarus, and progressive scoliosis (onset at adolescence). Skin is often dry and sometimes hyperkeratotic on hands and feet. Hair is curly and may be thick or sparse. Peripheral lymphedema may be present and may be progressive and extensive in some. Ocular anomalies (strabismus, refractive errors), and dental crowding are common. Hearing loss is present in 10%. Delayed speech and learning difficulties affect 30-40%. Intellectual disability (often mild) is present in 10-20%. Dyspraxia (clumsiness), attention deficit disorder, agitation, mood disorders and emotional disturbances are not rare, as well as difficulties in identifying and expressing emotions, which can lead to more difficult social interactions. Motor development and puberty are delayed and short stature is present in 50%. Unilateral or bilateral cryptorchidism is present in two-thirds of boys, and hypofertility may affect males, but not females. Thyroid dysfunction may occur. Coagulation defects are frequent but rarely clinically significant. 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. […] The prognosis is variable since the presentation ranges from mild/unrecognized manifestations in adulthood to severe disorder with life-threatening heart disease or malignancy in infancy. Severe cardiomyopathy may lead to early demise.

• #56 Macromo | Noonan Syndrome

  https://insider.macromo.com/articles/noonan-syndrome

  Noonan syndrome is characterized by mild facial dysmorphism, including ocular hypertelorism (widely set eyes), ptosis and a micrognathia (small jaw). Other musculoskeletal deformities can occur such as a short webbed neck with trident hairline, pectus excavatum (sunken chest) and short stature. […] Most people with Noonan syndrome have severe congenital heart defects, including hypertrophic cardiomyopathy, in which the myocardium (the muscle of the heart) is enlarged and weakened. Another typical defect is pulmonary valve stenosis, a narrowing of the pulmonary valve in the heart. […] 2/3 of people with Noonan syndrome, have a normal intelligence, however, occasionally mild learning difficulties can occur that are associated with vision and hearing problems. […] Bleeding disorders can occur in around 20-30% of individuals with Noonan syndrome due to defects in the coagulation factors as well as due to low levels of platelets in the blood, which are crucial to ensure an adequate hemostasis (process responsible to stop bleeding).

• #57 Noonan Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/noonan-syndrome/

  Many people with Noonan syndrome don’t show any symptoms at birth. Some may have larger-than-normal head and body size, and in males, the testes might be undescended which can increase risk of infertility. Most females, however, are not at risk for infertility. The most common heart defects in the condition are pulmonic stenosis and thickening of the heart muscle; the severity of these might vary, and sometimes, they may not be found during a routine checkup. Young infants may have trouble feeding and gaining weight, experience hearing loss, and eye misalignment. Noonan syndrome is also associated with learning and development delays, which can be expressed as delayed speech or movement milestones, deafness, and short stature. […] As the child grows, distinct facial characteristics begin to form. These may include wide-set eyes, low-set ears, blue irises, drooping of the eyelids, mild webbing at the neck, high forehead, down-slanting outer corners of the eyes, and skin folds at the inner corners of the eyes. With age, these facial traits start to show signs of early aging, and the jaw lengthens giving the face a triangular look. It’s common for people with Noonan syndrome to suffer from lymphatic dysplasia, which can cause generalized swelling in the limbs and abdomen. A fetus with the condition might show a fluid-filled sac caused by blockage in the lymphatic system. People with Noonan Syndrome may bruise or bleed easily due to a blood clotting disorder. The most common cause is a lack of factor XI, a protein needed for blood clotting. Bone abnormalities, like an outwardly bulging chest (pectus carinatum) or a sunken chest (pectus excavatum), are also common in people with Noonan syndrome.

• #58 Noonan syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428

  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. […] 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.

• #59 Characteristics/Symptoms | New England Regional Genetics Network

  https://www.negenetics.org/gemss/conditions/noonan-syndrome/resources/characteristics-symptoms

  May have curly, coarse, or sparse hair. […] Coagulation (blood clotting) problems […] Specific testing will identify the problem and treatment if necessary. […] May include bruising or nose bleeds, bleeding with surgery. […] Avoid aspirin unless documented that they dont have coagulation defects. […] Dental issues […] Poor bite in 50-66%. […] Lymphatic dysplasia (difficulty with the lymph system which drains excess fluid from the body and helps fight infection) […] May be in one area or widespread. […] May be before or after birth. […] Overall incidence in all age groups is 20%. […] Lymphedema in the arms or legs is the most common […] Typically resolves in first few years of life. […] Adolescents and adults can also develop peripheral lymphedema. […] Ocular (eyes) (95%)

• #60 Noonan syndrome | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/noonan-syndrome/

  Noonan syndrome can cause hearing problems due to nerve issues or an inner ear bone structure that is not typical. […] Noonan syndrome can cause bleeding problems and easy bruising. That’s because the blood of some people with Noonan syndrome may not clot properly and may have low levels of proteins that are needed for clots to form. So they bleed longer than usual. […] Noonan syndrome can cause problems with the lymphatic system, which drains excess fluid from the body and helps fight infection. […] Many people with Noonan syndrome have problems with their genitals and kidneys: It’s common for males with Noonan syndrome to have undescended testicles. These are testicles that have not moved into proper position in the bag of skin hanging below the penis, called the scrotum. […] People with Noonan syndrome may have skin conditions. They may have various problems that affect the color and texture of the skin. They also may have coarse or sparse hair. […] Complications from Noonan syndrome can arise that may need attention, including: Developmental delays. Children with Noonan syndrome may be slow to develop compared with other children their age.

• #61 Noonan Syndrome | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/noonan-syndrome/

  A more serious Noonan syndrome symptom is an abnormal collection of lymphatic fluid called chylothorax, which can appear as puffiness throughout the body, or a fluid collection around the lungs or in the abdomen. This can affect breathing and may require immediate medical attention or surgery. […] While there is no cure for Noonan syndrome, it is possible to treat nearly all its related symptoms. With modern treatments, the life expectancy for people with Noonan syndrome can reach the same as those without Noonan syndrome and most children with the condition live healthy lives.

• #62 Noonan Syndrome | Signs and symptoms of Noonan Syndrome

  https://jewelautismcentre.com/jewel_blog/noonan-syndrome/

  Between 50 and 70 percent of individuals with Noonan syndrome have short stature. At birth, they are usually a normal length and weight, but growth slows over time. Abnormal levels of growth hormone, a protein that is necessary for the normal growth of the bodys bones and tissues, may contribute to the slow growth. […] 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). Some have hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle. […] Most children diagnosed with Noonan syndrome have normal intelligence, but a few have special educational needs, and some have intellectual disability. Some affected individuals have vision or hearing problems. Affected infants may have feeding problems, which typically get better by age 1 or 2 years. Infants with Noonan syndrome may be born with puffy hands and feet caused by a buildup of fluid (lymphedema), which can go away on its own. Older individuals can also develop lymphedema, usually in the ankles and lower legs. […] Some people with Noonan syndrome develop cancer, particularly those involving the blood-forming cells (leukemia). It has been estimated that children with Noonan syndrome have an eightfold increased risk of developing leukemia or other cancers over age-matched peers.

• #63 Noonan Syndrome Symptoms, Causes, Diagnosis, Treatment

  https://www.verywellhealth.com/noonan-syndrome-overview-4160006

  Noonan syndrome may cause blood-clotting problems, which results in excessive bruising as well as bleeding for a longer than usual period after injury. […] At least half of children who have Noonan syndrome have problems with vision and eye movement, such as a lazy eye or a deviated eye. […] Children and adults who have Noonan syndrome may have problems with bone formation and bone strength, resulting in fragile bones that can break more easily than usual or that may result in an unusual body structure, particularly of the chest. […] Boys and girls who have Noonan syndrome may experience delayed puberty. Some boys have undescended testicles and may experience decreased fertility later in life. […] There is an association between learning disorders and Noonan syndrome, although the link is not strong.

• #64 About Noonan Syndrome

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

  Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage. […] Symptoms of Noonan syndrome may include the following: A characteristic facial appearance. Short stature. Heart defect present at birth (congenital heart defect). A broad or webbed neck. Minor eye problems such as strabismus in up to 95 percent of individuals. Bleeding problems such as a history of abnormal bleeding or bruising. An unusual chest shape with widely-spaced and low set nipples. Developmental delay of varying degrees, but usually mild. In males, undescended testes (cryptorchidism). […] Symptoms of Noonan syndrome may include the following: A characteristic facial appearance. Short stature. Heart defect present at birth (congenital heart defect). A broad or webbed neck. Minor eye problems such as strabismus in up to 95 percent of individuals. Bleeding problems such as a history of abnormal bleeding or bruising. An unusual chest shape with widely-spaced and low set nipples. Developmental delay of varying degrees, but usually mild. In males, undescended testes (cryptorchidism).

• #65 Noonan Syndrome | Quirónsalud

  https://www.quironsalud.com/en/diseases-symptoms/noonan-syndrome

  Noonan syndrome is a genetic alteration that causes abnormal physical development affecting certain parts of the body and, in some cases, also impairs cognitive ability. It can manifest to varying degrees depending on the individual, which is why life expectancy varies based on whether or not the heart is severely affected. […] The main characteristics of this syndrome include distinct facial features, short stature, and congenital heart disease. […] Depending on the degree of severity and the gene affected, the symptoms of Noonan syndrome can vary significantly. The most notable signs include: Wide-set eyes that slant slightly downward, Strabismus, Cataracts, Depressed nasal bridge, Low-set ears, High-arched palate, Pulmonary valve stenosis (narrowing), Myocardial thickening, Cardiac arrhythmias, Delayed growth and short stature in adulthood, Pectus excavatum (sunken chest), Curved spine, Bleeding problems.

• #66 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 1,0002,500 people. The signs and symptoms can vary greatly from person to person, so this condition may be underdiagnosed or even misdiagnosed. […] People with Noonan syndrome may have certain facial features, heart defects, short stature, or other physical and developmental issues. […] 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. […] There are many symptoms of Noonan syndrome. They range in severity from mild to serious. […] Symptoms may include: […] Certain facial features: wide-set eyes, low-set ears, broad nose and forehead, small jaw […] Eye conditions: ptosis (drooping eyelids), wide distance between eyes, amblyopia (lazy eye), astigmatism, squinting

• #67 Noonan syndrome: Is it hereditary?

  https://www.medicalnewstoday.com/articles/noonan-syndrome-hereditary

  Noonan syndrome is a genetic disorder that can cause changes in physical appearance and health issues, such as a heart abnormality and bleeding problems. […] Treatment focuses on managing symptoms of Noonan syndrome and may depend on the type and severity of symptoms people have. Treatment may include: standard heart treatments for any heart problems, with regular monitoring; regular health checks, including hearing tests and eye exams during childhood; growth hormones for growth problems, if a lack of growth hormone is the cause; treating any bleeding problems in accordance with their cause; orchiopexy, which is surgery to move undescended testicles into the scrotum in boys around the age of 1 year. […] The outlook for Noonan syndrome can depend on the severity of the condition and symptoms. Noonan syndrome and its complications can range from very mild to severe. For example, complications from a heart abnormality can be life threatening. […] Most individuals with Noonan syndrome will require regular heart monitoring. […] In many cases, symptoms and complications of Noonan syndrome reduce over time, and a person can experience a largely independent and fulfilling adulthood.

• #68 Noonan Syndrome | Enhanced Dental CPD Online

  https://www.dentaljuce.com/shorts-noonan-syndrome

  Noonan syndrome (NS) is a genetic disorder involving mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. […] The most common signs leading to a diagnosis of NS are unique facial characteristics and musculoskeletal features. Facial features include widely spaced eyes, light-coloured eyes, low-set ears, a short neck, and a small lower jaw. […] Individuals with NS often have a large head with excess skin on the back of the neck, a low hairline at the nape, a high hairline at the front, a triangular face shape, and a broad forehead. […] Skin manifestations in NS include lymphedema, keloid formation, hyperkeratosis, pigmented nevi, and connective tissue disease. […] Musculoskeletal abnormalities may include bluntly ended fingers, extra padding on fingers and toes, oedema of the hands and feet, and cubitus valgus.

• #69 Noonan syndrome – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/1193

  Noonan syndrome is a relatively common, autosomal-dominant inherited disorder. […] Characteristic phenotype includes short stature, chest deformity, congenital heart defects, and unusual facial features. […] Boys frequently present with cryptorchidism and manifest delayed puberty. […] 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. […] Key diagnostic factors include short stature, dysmorphic facial features, cryptorchidism, cardiac anomalies, delayed puberty, easy bruising or bleeding, lymphoedema, pigmentary anomalies, sparse or absent eyebrows and lashes, and splenomegaly. […] Other diagnostic factors include chest deformity, developmental delay/learning difficulty, skeletal anomalies, and muscle weakness.

• #70 Noonan syndrome | Contact

  https://contact.org.uk/conditions/noonan-syndrome/

  Characteristics of Noonan syndrome include: heart defects – the most common being pulmonary valve stenosis, atrial septal defects and hypertrophic cardiomyopathy; characteristic facial features, including ptosis (drooping eyelids), hypertelorism (widely spaced eyes), large downward-slanting eyes, flat nasal bridge and short neck with neck webbing and anterior rotation (slanting forwards) of the ears; short stature. […] Additional features may include: excess oedema (fluid retention in the body) at birth and slow weight gain; feeding difficulties with poor sucking and weaning and frequent and/or forceful vomiting in babies which may be assessed as failure to thrive; mild hearing loss; dental delay; elevated or depressed sternum; hypotonia; undescended testes (meaning that the testicles stay within the abdomen); mild developmental delay in a small number of children; speech and behaviour problems. […] In addition, the characteristics of the syndrome, especially facial, appear to change as the individual ages.

• #71 Noonan Syndrome | Enhanced Dental CPD Online

  https://www.dentaljuce.com/shorts-noonan-syndrome

  Noonan syndrome is the second most common syndromic cause of congenital heart disease. About 50-70% of individuals have congenital heart defects, with pulmonary valvular stenosis being the most common. […] GI symptoms can include swallowing difficulties, low gut motility, gastroparesis, intestinal malrotation, and frequent vomiting, leading to decreased appetite and failure to thrive. […] Cognitive abilities in individuals with NS range broadly, from mild intellectual disability to normal intelligence. Seizures have been reported. […] NS is typically inherited in an autosomal dominant pattern with variable expression. […] Diagnosis is based on clinical symptoms, medical imaging, and blood tests, confirmed with genetic testing. […] Treatment is symptom-based. Cardiovascular complications are managed similarly to the general population.

• #72 Noonan syndrome | healthdirect

  https://www.healthdirect.gov.au/noonan-syndrome

  Health problems people living with Noonan Syndrome can have: heart disease and heart defects, bleeding (clotting) problems, muscle and bone abnormalities low muscle tone, unusually shaped chest, scoliosis, hypermobile joints, cancer children are at a higher risk of developing leukaemia and some other cancers, gastrointestinal problems swallowing problems, delayed gastric emptying (gastroparesis) some may need a feeding tube, vision can be affected by drooping eyelids, hearing loss. […] Some children with Noonan syndrome may have intellectual disability or behavioural problems. […] There is no cure for Noonan syndrome. Each person living with Noonan syndrome receives individualised treatment to help manage their symptoms and health complications. […] 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.

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

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

  Noonan syndrome is a genetic disorder characterized by short stature, distinctive facial features, heart defects, bleeding problems and skeletal abnormalities. […] Most individuals with Noonan syndrome have normal intelligence, but some may have special educational needs or intellectual disability. […] The characteristic appearance is often most evident in the newborn period and childhood and more subtle in adults. […] There is significant variability in the number of features and/or the severity of their presentation in children with Noonan syndrome. […] Individuals should meet with a genetics specialist with experience in the diagnosis and management of Noonan syndrome in order to confirm the diagnosis and coordinate medical management. […] While cancer is not a major feature of Noonan syndrome, people with Noonan syndrome are at a slightly increased risk to develop certain malignant (cancerous) conditions including: Myeloproliferative disorder, Juvenile myelomonocytic leukemia (JMML), Neuroblastoma, Embryonal rhabdomyosarcoma, Giant cell lesions, Granular cell tumors.

• #74 RASopathies | Noonan Syndrome

  https://rasopathies.cancer.gov/syndromes/noonan.html

  Noonan Syndrome is a genetic disorder which may be caused by variants in one of several Ras/MAPK pathway genes, including PTPN11, SOS1, RAF1 and KRAS. Patients with Noonan Syndrome have an increased risk of developing several cancers that affect the blood (leukemia), nervous system (neuroblastoma), brain (glioma), muscle (rhabdomyosarcoma), and bones. […] What are some of the features and symptoms of Noonan Syndrome? Widely spaced eyes, low set ears usually rotated backward, short/webbed neck and broad forehead. Short stature, unusual chest shape, curved spine. Heart defects. Renal anomalies. Failure to thrive/feeding problems. Neurological issues. Undescended testes (testicles that haven’t moved into the correct position). Eye diseases. Bleeding disorders. Hearing loss. Intellectual disability and language impairment.

• #75 Noonan syndrome: Causes, symptoms, and management

  https://www.medicalnewstoday.com/articles/179200

  However, symptoms vary widely from person to person, and the outlook varies accordingly. Long-term prognosis tends to depend on the presence and severity of heart defects. […] The Genetic and Rare Diseases Information Center advise that, with early intervention and proper management of symptoms, most people with Noonan syndrome reach adulthood and lead independent lives.

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

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

  Developmental concerns, such as: […] Growth issues: short stature apparent around child’s second birthday (without treatment, the average adult height for females with Noonan syndrome is 5 feet and 5 feet and 3 inches for males) […] Learning disabilities: some people with Noonan syndrome may experience mild learning disabilities or lower IQ. […] Other issues: problems with feeding and behavior are other possibilities, though they’re less common. […] With the right medical care and therapies, many children with Noonan syndrome are likely to live healthy lives as they grow into adulthood. […] Not only that, but it’s also important to note that new symptoms or medical issues don’t typically develop as kids get older. […] Each child is affected by Noonan syndrome in a different way, so the outlook is highly individual. Congenital heart defects in particular, left ventricular disease are the biggest concern with regard to adverse health outcomes.

• #77 Macromo | Noonan Syndrome

  https://insider.macromo.com/articles/noonan-syndrome

  The prognosis of Noonan syndrome depends on the severity of symptoms, particularly on the severity of the congenital heart defects. […] Studies indicate that Noonan syndrome can increase the mortality rate by 3-fold compared with the general population, however most people can have a normal lifespan.

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