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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
General
otopalatodigital syndrome (oto-palato-digital syndrome spectrum disorder)
Database Correlations
OMIM 304120
References
OMIM :accession 304120