polydactyly—preaxial 2

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polydactyly—preaxial 22016-11-27T16:54:56+00:00

polydactyly—preaxial 2

EMBRYOLOGY, GENETICS, ORTHOPAEDICS

Definition Polydactyly—preaxial 2 is a form (OMIM:174500) of polydactyly characterised by duplication of the distal phalanx. The thumb is usually opposable and has a normal metacarpal. 

Molecular pathology Defects in LMBR1, a gene with an SHH regulatory element—ZRS that resides in LMBR1’s intron 5, cause both polydactyly—preaxial 2 and triphalangeal thumb-polysyndactyly syndrome.

*SHH is the gene that encodes Sonic Hedgehog, a protein central to early embryonic patterning for the anterior-posterior limb axis, the ventral somites and ventral neural tube.

Reference http://www.omim.org/entry/174500 

http://www.uniprot.org/uniprot/Q15465

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