Otopalatodigital syndrome type I is a rare genetic disorder marked by the association of
- skeletal dysplasia
- hearing loss
- cleft palate
- and a characteristic face (with hypertelorism, broad nasal root, prominent supraorbital ridges, small flat nose and downslanted palpebral fissures).
It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes