Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Syndactyly type 3

Synonym(s) SD3
Syndactyly of fingers 4 and 5
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Infancy
  • Q70.1
  • C1861366
  • C538154
MedDRA -


Disease definition

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.

Clinical description

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.

Genetic counseling

SD3 is inherited in an autosomal dominant manner.

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Detailed information

Review article
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.