Autosomal Recessive Faciodigitogenital Syndrome

A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.

Epidemiology

It has been observed in 16 subjects from five distantly related sibships of a large Kuwaiti Bedouin tribe.

Clinical description

Dysmorphic features include triangular or elongated face, hypertelorism, wide palpebral fissures, short, stubby nose with anteverted nostrils, long philtrum and ear anomalies. The hands are small, broad with mild interdigital webbing, 5th finger clinodactyly and lax joints. In one sibship, affected patients had coarse, dry, and hypopigmented hair. The affected patients had no intellectual deficit.

Genetic counseling

In this tribe, the condition is transmitted as an autosomal recessive trait.