People with Noonan syndrome may have skin conditions, which most commonly are: Kidney problems are generally mild and occur in a fairly small number of people with Noonan syndrome. In males, however, fertility may not develop normally, often because of undescended testicles. Puberty may be delayed in both boys and girls. Undescended testicles (cryptorchidism) are common in males. Many people, especially males, with Noonan syndrome can have problems with the genitals and kidneys. Most commonly cause excess fluid (lymphedema) on the back of the hands or top of the feet.Can be focused in a particular area of the body or widespread.May show up before or after birth or develop in the teenage years or adulthood.Noonan syndrome can cause problems with the lymphatic system, which drains excess fluid from the body and helps fight infection. Noonan syndrome can cause excessive bleeding and bruising due to clotting defects or having too few platelets. Noonan syndrome can cause hearing deficits due to nerve issues or to structural abnormalities in the inner ear bones.
Hearing and vision deficits that may complicate learningĪ common sign of Noonan syndrome is abnormalities of the eyes and eyelids.A wide range of mental, emotional and behavioral issues that are usually mild.An increased risk of learning disabilities and mild intellectual disability.Intelligence isn't affected for most people with Noonan syndrome. Short neck, often with extra folds of skin (webbed neck) or prominent neck muscles (trapezius).
An unusually shaped chest often with a sunken sternum (pectus excavatum) or raised sternum (pectus carinatum).By adulthood, some people with Noonan syndrome may have normal height, but short stature is more common.But because this disorder causes bone maturity to be delayed, growth sometimes continues into the late teens. The growth spurt that's usually seen during the teenage years may be delayed.Growth hormone levels may be insufficient.Eating difficulties may result in inadequate nutrition and poor weight gain.Birth weight will likely be normal, but growth slows over time.Many children with Noonan syndrome don't grow at a normal rate. Noonan syndrome can affect normal growth. Irregular heart rhythm occurs in the majority of people with Noonan syndrome. This can occur with or without structural heart abnormalities. 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). Other structural defects of the heart.This is abnormal growth or thickening of the heart muscle that affects some people with Noonan syndrome. Thickening of the heart muscle (hypertrophic cardiomyopathy).It's the most common heart problem seen with Noonan syndrome, and it may occur alone or with other heart defects. 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). Some forms of congenital heart disease associated with this disorder include: Some heart problems can occur later in life. 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. Skin may appear thin and transparent with age.Head may appear large with a prominent forehead and a low hairline on the back of the head.The face may appear droopy and expressionless. Facial features may appear coarse, but appear sharper with age.Teeth may be crooked, the inside roof of the mouth (palate) may be highly arched and the lower jaw may be small. The crease that runs from the edge of the nose to the corner of the mouth becomes deeply grooved with age. Mouth has a deep groove between the nose and the mouth and wide peaks in the upper lip.Nose is depressed at the top, with a wide base and bulbous tip.Eyes are wide-set and down-slanting with droopy lids.In adulthood, these distinct features become more subtle. These features may be more pronounced in infants and young children, but change with age. Facial featuresįacial appearance is one of the key clinical features that leads to a diagnosis of Noonan syndrome. Characteristics may be related to the specific gene containing the mutation. Signs and symptoms of Noonan syndrome vary greatly among individuals and may be mild to severe.
0 kommentar(er)
