Signs and symptoms of Noonan syndrome vary greatly among individuals and may be mild to severe. Characteristics may be related to the specific gene containing the mutation. Facial features Facial appearance is one of the key clinical features that leads to a diagnosis of Noonan syndrome. These features may be more pronounced in infants and young children, but change with age. In adulthood, these distinct features become more subtle. Features may include the following:  Eyes are wide-set and down-slanting with droopy lids. Irises are pale blue or green. Ears are low-set and rotated backward. Nose is depressed at the top, with a wide base and bulbous 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 (palate) may be highly arched and the lower jaw may be small. Facial features may appear coarse, but appear sharper with age. The face may appear droopy and expressionless. Head may appear large with a prominent forehead and a low hairline on the back of the head. Skin may appear thin and transparent with age.  Heart disease Many people with Noonan syndrome are born with some form of heart defect (congenital heart disease), accounting for some of the key signs and symptoms of the disorder. Some heart problems can occur later in life. Some forms of congenital heart disease associated with this disorder include:  Valve disorders. Pulmonary valve stenosis is a narrowing of the pulmonary valve, the flap of tissue that separates the lower right chamber (ventricle) of the heart from the artery that supplies blood to the lungs (pulmonary artery). It's the most common heart problem seen with Noonan syndrome, and it may occur alone or with other heart defects. Thickening of the heart muscle (hypertrophic cardiomyopathy). This is abnormal growth or thickening of the heart muscle that affects some people with Noonan syndrome. Other structural defects of the heart. The defects can involve a hole in the wall that separates the two lower chambers of the heart (ventricular septal defect), narrowing of the artery that carries blood to the lungs for oxygen (pulmonary artery stenosis), or narrowing of the major blood vessel (aorta) that carries blood from the heart to the body (aortic coarctation). Irregular heart rhythm. This can occur with or without structural heart abnormalities. Irregular heart rhythm occurs in the majority of people with Noonan syndrome.  Growth issues Noonan syndrome can affect normal growth. Many children with Noonan syndrome don't grow at a normal rate. Issues may include the following:  Birth weight will likely be normal, but growth slows over time. Eating difficulties may result in inadequate nutrition and poor weight gain. Growth hormone levels may be insufficient. The growth spurt that's usually seen during the teenage years may be delayed. But because this disorder causes bone maturity to be delayed, growth sometimes continues into the late teens. By adulthood, some people with Noonan syndrome may have normal height, but short stature is more common.  Musculoskeletal issues Some common issues can include:  An unusually shaped chest often with a sunken sternum (pectus excavatum) or raised sternum (pectus carinatum) Wide-set nipples Short neck, often with extra folds of skin (webbed neck) or prominent neck muscles (trapezius) Deformities of the spine  Learning disabilities Intelligence isn't affected for most people with Noonan syndrome. However, individuals may have:  An increased risk of learning disabilities and mild intellectual disability A wide range of mental, emotional and behavioral issues that are usually mild Hearing and vision deficits that may complicate learning  Eye conditions A common sign of Noonan syndrome is abnormalities of the eyes and eyelids. These may include:  Problems with the eye muscles, such as cross-eye (strabismus) Refractive problems, such as astigmatism, nearsightedness (myopia) or farsightedness (hyperopia) Rapid movement of the eyeballs (nystagmus) Cataracts  Hearing problems Noonan syndrome can cause hearing deficits due to nerve issues or to structural abnormalities in the inner ear bones. Bleeding Noonan syndrome can cause excessive bleeding and bruising due to clotting defects or having too few platelets. Lymphatic conditions Noonan syndrome can cause problems with the lymphatic system, which drains excess fluid from the body and helps fight infection. These problems:  May show up before or after birth or develop in the teenage years or adulthood Can be focused in a particular area of the body or widespread Most commonly cause excess fluid (lymphedema) on the back of the hands or top of the feet  Genital and kidney conditions Many people, especially males, with Noonan syndrome can have problems with the genitals and kidneys.  Testicles. Undescended testicles (cryptorchidism) are common in males. Puberty. Puberty may be delayed in both boys and girls. Fertility. Most females develop normal fertility. In males, however, fertility may not develop normally, often because of undescended testicles. Kidneys. Kidney problems are generally mild and occur in a fairly small number of people with Noonan syndrome.  Skin conditions People with Noonan syndrome may have skin conditions, which most commonly are:  Various problems that affect the color and texture of the skin Curly, coarse hair or sparse hair  When to see a doctor The signs and symptoms of Noonan syndrome can be subtle. If you suspect you or your child may have the disorder, see your primary care doctor or your child's pediatrician. You or your child may be referred to a geneticist or a cardiologist. If your unborn child is at risk because of a family history of Noonan syndrome, prenatal tests may be available.
signs symptoms noonan syndrome vary greatly individuals may mild severe  characteristics may specific gene containing mutation  facial features facial appearance key clinical features leads diagnosis noonan syndrome  features may pronounced infants young children  change age  adulthood  distinct features subtle  features may include following:  eyes wide-set down-slanting droopy lids  irises pale blue green  ears low-set rotated backward  nose depressed top  wide base bulbous tip  mouth deep groove nose mouth wide peaks upper lip  crease runs edge nose corner mouth deeply grooved age  teeth may crooked  inside roof mouth (palate) may highly arched lower jaw may small  facial features may coarse  sharper age  face may droopy expressionless  head may large prominent forehead low hairline back head  skin may thin transparent age   heart disease people noonan syndrome born form heart defect (congenital heart disease)  accounting key signs symptoms disorder  heart problems can occur later life  forms congenital heart disease associated disorder include:  valve disorders  pulmonary valve stenosis narrowing pulmonary valve  flap tissue separates lower right chamber (ventricle) heart artery supplies blood lungs (pulmonary artery)  it's common heart problem seen noonan syndrome  may occur alone heart defects  thickening heart muscle (hypertrophic cardiomyopathy)  abnormal growth thickening heart muscle affects people noonan syndrome  structural defects heart  defects can involve hole wall separates lower chambers heart (ventricular septal defect)  narrowing artery carries blood lungs oxygen (pulmonary artery stenosis)  narrowing major blood vessel (aorta) carries blood heart body (aortic coarctation)  irregular heart rhythm  can occur structural heart abnormalities  irregular heart rhythm occurs majority people noonan syndrome   growth issues noonan syndrome can affect normal growth  children noonan syndrome don't grow normal rate  issues may include following:  birth weight will likely normal  growth slows time  eating difficulties may result inadequate nutrition poor weight gain  growth hormone levels may insufficient  growth spurt that's seen teenage years may delayed  disorder causes bone maturity delayed  growth continues late teens  adulthood  people noonan syndrome may normal height  short stature common   musculoskeletal issues common issues can include:  unusually shaped chest sunken sternum (pectus excavatum) raised sternum (pectus carinatum) wide-set nipples short neck  extra folds skin (webbed neck) prominent neck muscles (trapezius) deformities spine  learning disabilities intelligence isn't affected people noonan syndrome  however  individuals may have:  increased risk learning disabilities mild intellectual disability wide range mental  emotional behavioral issues mild hearing vision deficits may complicate learning  eye conditions common sign noonan syndrome abnormalities eyes eyelids  may include:  problems eye muscles  cross-eye (strabismus) refractive problems  astigmatism  nearsightedness (myopia) farsightedness (hyperopia) rapid movement eyeballs (nystagmus) cataracts  hearing problems noonan syndrome can cause hearing deficits due nerve issues structural abnormalities inner ear bones  bleeding noonan syndrome can cause excessive bleeding bruising due clotting defects platelets  lymphatic conditions noonan syndrome can cause problems lymphatic system  drains excess fluid body helps fight infection  problems:  may show birth develop teenage years adulthood can focused area body widespread commonly cause excess fluid (lymphedema) back hands top feet  genital kidney conditions people  especially males  noonan syndrome can problems genitals kidneys   testicles  undescended testicles (cryptorchidism) common males  puberty  puberty may delayed boys girls  fertility  females develop normal fertility  males  however  fertility may develop normally  undescended testicles  kidneys  kidney problems generally mild occur fairly small number people noonan syndrome   skin conditions people noonan syndrome may skin conditions  commonly are:  problems affect color texture skin curly  coarse hair sparse hair  see doctor signs symptoms noonan syndrome can subtle  suspect child may disorder  see primary care doctor child's pediatrician  child may referred geneticist cardiologist  unborn child risk family history noonan syndrome  prenatal tests may available
noonan syndrome