Syndactyly type 3(SDTY3)

MedGen UID:: 396117
•Concept ID:: C1861366
•: 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: 141047 •Concept ID: C0443147 • 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. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	GJA1 (6q22.31)

Monarch Initiative:	MONDO:0008514
OMIM®:	186100
Orphanet:	ORPHA93404

Definition

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:: 75581
•Concept ID:: C0265660
•: 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".

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Short 5th finger

MedGen UID:: 334269
•Concept ID:: C1842878
•: Congenital Abnormality

Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.

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Absent middle phalanx of 5th finger

MedGen UID:: 479380
•Concept ID:: C3277750
•: Finding

Absence of the middle phalanx of the little (5th) finger.

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3-4 finger cutaneous syndactyly

MedGen UID:: 868712
•Concept ID:: C4023115
•: Congenital Abnormality

A soft tissue continuity in the A/P axis between fingers 3 and 4.

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4-5 finger cutaneous syndactyly

MedGen UID:: 869305
•Concept ID:: C4023731
•: Anatomical Abnormality

A soft tissue continuity in the anteroposterior axis between the fourth (ring) to the fifth (little) finger that extends distally to at least the level of the proximal interphalangeal joints.

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