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Noonan syndrome



This syndrome is characterized by a combination of clinical signs in the back of the neck including a relatively short neck, webbing of the neck due to surplus skin, and a low hairline on the nape; heart defects such as disorders of the contraction of the heart and pulmonary valve and/or artery stenosis (narrowing), etc. Some patients may have a slightly short stature, a relatively large distance between the nipples, a small penis, and a number of relatively mild changes in the arm posture in the elbow region and in the face, etc. In about one third to one half of cases there is a delay in development of varying degrees. The severity of the disease varies.

During intrauterine life, the prominent findings are nuchal edema, which is usually reabsorbed leaving surplus skin, and sometimes a heart defect.

A small proportion of these cases are familial, but it is usually a sporadic occurrence with a single case in the family.

 
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