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Syndactyly type 3

Orpha number ORPHA93404
Synonym(s) SD3
Syndactyly of fingers 4 and 5
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q70.1
ICD-O -
OMIM
UMLS
  • C1861366
MeSH
  • C538154
MedDRA -

Summary

Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.

The prevalence is unknown.

In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The feet are not affected.

The locus associated with SD3 maps to 6q21-q23. Mutations in the GJA1 gene may be causative. Mutations of this gene have also been observed in oculodentodigital dysplasia (see this term), suggesting that both syndromes are part of the same spectrum.

SD3 is inherited in an autosomal dominant manner.


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Detailed information

Review article
  • EN (2012,pdf)
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