brachydactyly A1—C

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brachydactyly A1—C2016-11-24T22:01:27+00:00

brachydactyly A1—C

GENETICS

hereditary form (OMIM:615072) of brachydactyly*, characterised by rudimentary middle phalanges of all digits, or phalanges fused with terminal phalanges. The proximal phalanges of the thumbs and great toes are short.

*Brachydactyly defines a group of inherited malformations characterised by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals.

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDF5

http://www.omim.org/entry/615072

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