Noonan Syndrome

Noonan syndrome it is a disease of genetic origin, autosomal dominant, which causes abnormal development of various body parts.

This syndrome is considered a type of dwarfism that affects 1 in 2,500 live births, affecting both sexes equally.

It was in 1963 that this syndrome was recognized as a single entity when Noonan and Ehmke described several patients with unusual face, and multiple malformations, including congenital heart disease. Previously, it was believed that these patients could be carriers of Turner syndrome, since the latter shares many clinical features with Noonan syndrome.

Clinical manifestations of Noonan syndrome include, in addition to short stature:

• unusual facial features: narrow maxilla, small jaw, eyes wide apart, almond-shaped and abnormally shaped ears;

• Neck winged;

• thoracic deformity;

• Congenital heart disease (50% of cases);

• Mental retardation (25% of cases);

• haemorrhagic diathesis (observed in half of the cases);

• Genitals undeveloped.

Diagnosis and Treatment

The diagnosis is still made on the basis of clinical features. Should also be done the differential diagnosis with other diseases of genetic origin, such as Turner syndrome, Costello syndrome, syndrome and syndrome cardiofaciocutânea Leopold.

There is no cure for this syndrome. Treatment is based on the symptoms presented by the patient.

Usually those with this syndrome have a life expectancy within the normal range, as well as intelligence within normal parameters.