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

More general terms

• otopalatodigital syndrome

Database

• OMIM: https://mirror.omim.org/entry/311300