Abstract

Facial femoral syndrome is a rare congenital disorder. It is also known as femoral dysgenesis, bilateral femoral dysgenesis, bilateral-Robin anomaly and femoral hypoplasia-unusual facies syndrome. The main features of this disorder are underdeveloped thigh bones (femurs) and unusual facial features.

Aetiology

The cause of this condition is not known. A genetic basis is suspected. More than one case have been reported in three families.

Diagnosis

The diagnosis is based on the combination of unusual facial features and the dysplastic or absent femurs.

Diagnosis may be made antenatally.

Treatment

There is no known specific treatment for this condition. Management is supportive.