Synpolydactyly
| Synpolydactyly | |
|---|---|
| Other names: Orthopedic | |
 | |
| 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. | |
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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
- ↑ 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
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