syndactyly type 5
Findings
No curated finding names syndactyly type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.
Definition from the Mondo Disease Ontology (MONDO:0008516), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
25 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.
- Absent distal interphalangeal creasesHPOHP:0001032
- 13 of 13 reported patients
- Absent middle phalanx of the 3rd toeHPOHP:0100381
- 13 of 13 reported patients
- Short distal phalanx of fingerHPOHP:0009882
- 12 of 13 reported patients
- Very frequent (80% to 99% of cases)
- Ulnar deviation of the 2nd fingerHPOHP:0009464
- 12 of 13 reported patients
- Ulnar deviation of the 3rd fingerHPOHP:0009463
- 12 of 13 reported patients
- Ulnar deviation of the 4th fingerHPOHP:0009278
- 12 of 13 reported patients
Show the remaining 13
- Camptodactyly of fingerHPOHP:0100490
- 10 of 13 reported patients
- Frequent (30% to 79% of cases)
- Broad distal phalanx of the thumbHPOHP:0009642
- 11 of 17 reported patients
- 2-3 toe syndactylyHPOHP:0004691
- Frequent (30% to 79% of cases)
- 3-4 finger osseus syndactylyHPOHP:0006097
- Frequent (30% to 79% of cases)
- Short 4th metacarpalHPOHP:0010044
- 6 of 13 reported patients
- Short 5th metacarpalHPOHP:0010047
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.
- HOXD13HGNC:5136
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: syndactyly type 5
- Also called
- postaxial syndactyly with metacarpal synostosisSD5