Ophthalmomandibulomelic Dysplasia

Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.

Epidemiology

Three cases in one family have been described so far (two males, one female).

Clinical description

Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal.

Etiology

The causative gene has not yet been identified.

Genetic counseling

Autosomal dominant inheritance has been suggested.