Synpolydactyly
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| Synpolydactyly | |
|---|---|
| Other names: Orthopedic | |
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| 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
External links
| Classification |
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