syndactyly 3

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syndactyly 32016-11-28T06:34:29+00:00

syndactyly 3

GENETICS

A form (OMIM:186100) of syndactyly* characterised by usually complete and bilateral syndactyly between the fourth and fifth fingers, usually limited to soft tissue, but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected.

*A congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached.

Molecular pathology Defects of GJA1, which encodes a gap junction family protein (connexin) thought to play a crucial role in the synchronised contraction of the heart and in embryonic development, may cause syndactyly 3.

Synonyms Ring and little finger syndactyly, syndactyly of fingers IV and V, syndactyly—type III 

References http://www.uniprot.org/uniprot/P17302

http://www.omim.org/entry/186100

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