Otopalatodigital syndrome type I

Otopalatodigital syndrome type I is a rare genetic disorder characterised by:

• 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 that also include:

• otopalatodigital syndrome type 2
• frontometaphyseal dysplasia
• Melnick-Needles syndrome