otopalatodigital syndrome type 1

otopalatodigital syndrome type 1

An X-linked semidominant condition (OMIM:311300) in which affected males have generalised skeletal dysplasia, mild mental retardation, hearing loss due to malformations of the ossicles, cleft palate, and typical facial anomalies which are milder than those of otopalatodigital syndrome type 2. Female carriers have variable (usually milder) expression of a similar phenotypic spectrum.

Molecular pathology
Defects in FLNA, which encodes filamin A, cause otopalatodigital syndrome type 1.