Synpolydactyly

Medical condition
Synpolydactyly
Other namesOrthopedic

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
D
  • OMIM: 186000 608180 610234
  • MeSH: C538153 C538153, C538153
  • DiseasesDB: 33019
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Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality
Appendicular
limb / dysmelia
Arms
clavicle / shoulder
hand deformity
Leg
hip
knee
foot deformity
Either / both
fingers and toes
reduction deficits / limb
multiple joints
Axial
Skull and face
Craniosynostosis
Craniofacial dysostosis
other
Vertebral column
Thoracic skeleton
ribs:
sternum:
other:
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Genetic disorders relating to deficiencies of transcription factor or coregulators
(1) Basic domains
1.2
1.3
(2) Zinc finger
DNA-binding domains
2.1
2.2
2.3
2.5
(3) Helix-turn-helix domains
3.1
3.2
3.3
3.5
(4) β-Scaffold factors
with minor groove contacts
4.2
4.3
4.7
4.11
(0) Other transcription factors
0.6
Ungrouped
Transcription coregulators
Coactivator:
Corepressor:


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