Synpolydactyly | |
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Other names | Orthopedic |
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]
OMIM | Name | Gene |
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186000 | SPD1 | HOXD13 |
608180 | SPD2 | FBLN1 |
610234 | SPD3 | ? at 14q11.2-q12 |
Classification |
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Appendicular limb / dysmelia |
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Axial |
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Genetic disorders relating to deficiencies of transcription factor or coregulators | |||||||||
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(1) Basic domains |
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(2) Zinc finger DNA-binding domains |
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(3) Helix-turn-helix domains |
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(4) β-Scaffold factors with minor groove contacts |
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(0) Other transcription factors |
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Ungrouped | |||||||||
Transcription coregulators |
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