Orofaciodigital Syndrome Type 4

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

Epidemiology

Approximately 15 cases have been reported so far.

Clinical description

Additional features include hypoplastic mandible, micrognathia, cleft palate, prominent eyes, low-set ears and normal intelligence.

Etiology

The causative gene has not yet been identified.

Genetic counseling

Autosomal recessive inheritance has been suggested.