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). Most people with Noonan syndrome have some form of critical congenital heart disease. Some affected people may also have an abnormal side-to-side curvature of the spine ( scoliosis ). Individuals with Noonan syndrome often have either a sunken chest (pectus excavatum) or a protruding chest ( pectus carinatum ). Abnormal levels of growth hormone, a protein that is necessary for the normal growth of the body's bones and tissues, may contribute to the slow growth. At birth, they are usually a normal length and weight, but growth slows over time. Many children with Noonan syndrome have a short neck, and both children and adults may have excess neck skin (also called webbing) and a low hairline at the back of the neck.īetween 50 and 70 percent of individuals with Noonan syndrome have short stature. Affected individuals may have a high arch in the roof of the mouth ( high-arched palate ), poor teeth alignment, and a small lower jaw ( micrognathia ). 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. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. Noonan syndrome is a condition that affects many areas of the body.
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