otopalatodigital syndrome type 2

otopalatodigital syndrome type 2

An X-linked dominant condition (OMIM:304120) in which affected males are abnormally modelled, with bowed bones, small or absent first digits and, more variably, cleft palate, posterior fossa brain anomalies, omphalocele and cardiac defects, which are more severe than those of otopalatodigital syndrome type 1. Female carriers have variable (usually milder) expression of a similar phenotypic spectrum.

Molecular pathology
Gain-of-function mutations in FLNA, which encodes filamin A, cause otopalatodigital syndrome type 2.

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