syndactyly type 3
Findings
No curated finding names syndactyly type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.
Definition from the Mondo Disease Ontology (MONDO:0008514), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 4-5 finger cutaneous syndactylyHPOHP:0010705
- 9 of 9 reported patients
- Finger syndactylyHPOHP:0006101
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
- Short toeHPOHP:0001831
- Occasional (5% to 29% of cases)
- 3-4 finger cutaneous syndactylyHPOHP:0011939
- 3 of 9 reported patients
- Toe syndactylyHPOHP:0001770
- 0 of 9 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GJA1HGNC:4274
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
4 names
Resolves to: syndactyly type 3
- Also called
- GJA1 non-syndromic syndactylynon-syndromic syndactyly caused by mutation in GJA1SD3syndactyly of fingers 4 and 5