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. Approximately 15 cases have been reported so far. Additional features include hypoplastic mandible, micrognathia, cleft palate, prominent eyes, low-set ears and normal intelligence. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.
Last update: November 2009