Synpolydactyly

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Synpolydactyly
Other names: Orthopedic
PMC4186389 ETM-08-05-1569-g05.png
Sequencing results of the HOXD13 gene from affected and unaffected individuals, compared with the reference HOXD13 gene sequence, the affected members all carried a 27-bp insertion, encoding nine additional alanines.

Synpolydactyly is a joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits). This is often a result of a mutation in the HOX D13 gene.[1]

Types

OMIM Name Gene
186000 SPD1 HOXD13
608180 SPD2 FBLN1
610234 SPD3 ? at 14q11.2-q12

References

  1. Malik S, Grzeschik KH (February 2008). "Synpolydactyly: clinical and molecular advances". Clin. Genet. 73 (2): 113–20. doi:10.1111/j.1399-0004.2007.00935.x. PMID 18177473. S2CID 36196199.

External links

Classification