Noonan syndrome

Generality

Noonan syndrome is a rare, sometimes inherited, genetic disorder that impairs the normal development of different anatomical parts of the body. Unusual facial features, short stature and some congenital heart defects are the main pathological and diagnostic signs.

Therapy consists of controlling and limiting symptoms, as Noonan syndrome is not curable. The most important treatments are those based on hormones and cardiac surgery (heart surgery).
The consequences of the disease are not always dramatic: in some cases, in fact, the Noonan syndrome can cause a nuanced symptomatology and allow a normal life.