Bilateral Microtia-Deafness-Cleft Palate Syndrome

This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.

Epidemiology

It has been described in four individuals from a consanguineous Iranian family.

Etiology

The syndrome is caused by point mutations in the HOXA2 gene, a gene that has already been shown to be involved in development of the auditory system in mice.