synpolydactyly type 1
Findings
No curated finding names synpolydactyly type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene.
Definition from the Mondo Disease Ontology (MONDO:0008513), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
3 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 toe syndactylyHPOHP:0004692
- 8 of 18 reported patients
- 3-4 finger cutaneous syndactylyHPOHP:0011939
- 5 of 20 reported patients
- Broad halluxHPOHP:0010055
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 · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: synpolydactyly type 1
- Also called
- HOXD13 non-syndromic synpolydactylynon-syndromic synpolydactyly caused by mutation in HOXD13SD2, Vordingborg typeSD2aSPD, Vordingborg typeSPD1synpolydactyly, Vordingborg type