multiple synostoses syndrome 2
Findings
No curated finding names multiple synostoses syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.
Definition from the Mondo Disease Ontology (MONDO:0012394), 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.
- Carpal synostosisHPOHP:0009702
- Finger symphalangismHPOHP:0009700
- Tarsal synostosisHPOHP:0008368
- Vertebral fusionHPOHP:0002948
- Wide noseHPOHP:0000445
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
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: multiple synostoses syndrome 2
- Also called
- GDF5 multiple synostoses syndromemultiple synostoses syndrome caused by mutation in GDF5multiple synostoses syndrome type 2