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Syndactyly type 3(SDTY3)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Ring and little finger syndactyly; SDTY3; Syndactyly of fingers four and five; SYNDACTYLY OF FINGERS IV AND V; Syndactyly of the ring and little finger; Syndactyly, Type III
SNOMED CT: Syndactyly type 3 (715725001); Syndactyly of fingers 4 and 5 (715725001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Gene (location): GJA1 (6q22.31)
Monarch Initiative: MONDO:0008514
OMIM®: 186100
Orphanet: ORPHA93404


A rare congenital distal limb malformation with complete and bilateral syndactyly between the fourth and fifth fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The feet are not affected. Inherited in an autosomal dominant manner. [from SNOMEDCT_US]

Clinical features

From HPO
Toe syndactyly
MedGen UID:
Concept ID:
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
Short 5th finger
MedGen UID:
Concept ID:
Congenital Abnormality
Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.
3-4 finger syndactyly
MedGen UID:
Concept ID:
Syndactyly with fusion of fingers three and four.
Absent middle phalanx of 5th finger
MedGen UID:
Concept ID:
Absence of the middle phalanx of the little (5th) finger.
4-5 finger syndactyly
MedGen UID:
Concept ID:
Anatomical Abnormality
Syndactyly with fusion of fingers four and five.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSyndactyly type 3
Follow this link to review classifications for Syndactyly type 3 in Orphanet.

Recent clinical studies

Clinical prediction guides

Wang D, Ren GF, Zhang HZ, Yi CY, Peng ZJ
Genet Mol Res 2016 Dec 2;15(4) doi: 10.4238/gmr15049060. PMID: 27966732

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