Noonan syndrome facts*
*Noonan syndrome facts medical author: Benjamin Wedro, MD, FACEP, FAAEM
- Noonan syndrome is a genetic disorder that may cause short stature, distinctive facial features and heart abnormalities.
- Aside from face and heart abnormalities, there may be associated bleeding abnormalities, scoliosis, infertility in males, lymphedema, and intellectual disability.
- It is inherited as an autosomal dominant disease, meaning that the abnormal gene is on a non-sex chromosome and requires just one of two inherited genes to be abnormal.
- The syndrome may also occur by a spontaneous mutation of the gene involved.
- Since it is a genetic disease, there is no cure.
Medically Reviewed by a Doctor on 12/30/2013
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