femoral agenesis/hypoplasia
MONDO:0016032Mondo
Findings
No curated finding names femoral agenesis/hypoplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.
Definition from the Mondo Disease Ontology (MONDO:0016032), read 2026-09-29. CC BY 4.0.
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.
- FGF8HGNC:3686
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: femoral agenesis/hypoplasia
- Also called
- congenital short femurfemoral intercalary meromelia