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otopalatodigital syndrome type 2

Thursday 15 May 2008

Definition: Otopalatodigital syndrome type 2 (OPD2) is an uncommon X-linked condition characterized by dysmorphic facies, a skeletal dysplasia affecting the axial and appendicular skeleton and extraskeletal anomalies including malformations of the brain, heart, genitourinary system, and intestines.

Missense mutations of the FLNA gene, which encodes for the protein filamin-A, have recently been shown to cause OPD2 and the allelic syndromes otopalatodigital type 1 (OPD1), Melnick-Needles syndrome, and frontometaphyseal dysplasia.


- American Journal of Medical Genetics Part A. Volume 143A, Issue 10 , Pages 1120 - 1125.