Skip Navigation LinksHome Page    >    Noonan syndrome
Pregnancy links...
Health links...
Genetics links...
Medical links...
Autism links...
Other links...

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.

Haven't found what you're looking for? Search for it here:   
Comments (0)

Leave a Comment
Email (will not be published)
Website (optional)
Your Comment

Line and paragraph breaks are automatic. Some HTML allowed: <a href="" title="">, <b>, <i>, <strike>

Please type the characters you see in the picture:

All content Copyright © 2009-2011, Genetics of Pregnancy Encyclopedia Corporation. All rights reserved.