radioulnar synostosis, nonsyndromic, susceptibility to
Findings
No curated finding names radioulnar synostosis, nonsyndromic, susceptibility to yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A susceptibility or predisposition to radioulnar synostosis in which the cause of the disease is a mutation in the SMAD6 gene.
Definition from the Mondo Disease Ontology (MONDO:0100183), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
1 feature
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.
- Radioulnar synostosisHPOHP:0002974
- 22 of 22 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.
- SMAD6HGNC:6772
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025