triphalangeal thumb-polysyndactyly syndrome

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triphalangeal thumb-polysyndactyly syndrome2016-11-28T08:38:55+00:00

triphalangeal thumb-polysyndactyly syndrome 

GENETICS

Definition An autosomal dominant condition (OMIM:174500) characterised by a wide spectrum of pre- and post-axial malformations due to an altered SHH expression pattern during limb development

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

*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.

Synonyms Polydactyly of triphalangeal thumb, triphalangeal thumb, triphalangeal thumb with polysyndactyly

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

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

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