Search
otopalatodigital syndrome type-1 (OPD1)
Genetics:
- X-linked dominant
- associated with defects in FLNA
Clinical manifestations:
- multiple congenital anomalies
- generalized skeletal dysplasia
- mild mental retardation
- hearing loss
- cleft palate,
- typical facial anomalies
- males with OPD1 have:
- cleft palate
- malformations of the ossicles causing deafness
- milder bone & limb defects than those associated with OPD2
- obligate female carriers of mutations causing both OPD1 & OPD2 have variable (often milder) expression of a similar phenotypic spectrum
General
otopalatodigital syndrome (oto-palato-digital syndrome spectrum disorder)
Database Correlations
OMIM 311300
References
OMIM :accession 311300