symphalangism, proximal, 1B
Findings
No curated finding names symphalangism, proximal, 1B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene.
Definition from the Mondo Disease Ontology (MONDO:0014125), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Abnormal finger flexion creaseHPOHP:0006143
- Clinodactyly of the 5th fingerHPOHP:0004209
- Pes planusHPOHP:0001763
- Proximal fifth finger symphalangismHPOHP:0009177
- Short 2nd fingerHPOHP:0009536
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.
- GDF5HGNC:4220
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
3 names
Resolves to: symphalangism, proximal, 1B
- Also called
- GDF5 proximal symphalangism (disease)proximal symphalangism (disease) caused by mutation in GDF5symphalangism, proximal, type 1B