otopalatodigital syndrome type-2; cranioorodigital syndrome (OPD2)

Pathology

• congenital bone disorder

Genetics

• associated with defects in FLNA

Clinical manifestations

• abnormally modeled, bowed bones
• small or absent first digits
• more variably, cleft palate, posterior fossa brain anomalies, omphalocele & cardiac defects

More general terms

• otopalatodigital syndrome

Database

• OMIM: https://mirror.omim.org/entry/304120