Fuhrmann syndrome
Findings
No curated finding names Fuhrmann syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.
Definition from the Mondo Disease Ontology (MONDO:0009232), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
23 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.
- Aplasia/Hypoplasia of the fibulaHPOHP:0006492
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the ulnaHPOHP:0006495
- Very frequent (80% to 99% of cases)
- Femoral bowingHPOHP:0002980
- Very frequent (80% to 99% of cases)
- Hypoplasia of the radiusHPOHP:0002984
- Very frequent (80% to 99% of cases)
- Radial bowingHPOHP:0002986
- Very frequent (80% to 99% of cases)
- Abnormal finger flexion creaseHPOHP:0006143
- Frequent (30% to 79% of cases)
Show the remaining 11
- Finger aplasiaHPOHP:0009380
- Frequent (30% to 79% of cases)
- Foot oligodactylyHPOHP:0001849
- Frequent (30% to 79% of cases)
- Hypoplastic iliac wingHPOHP:0002866
- Frequent (30% to 79% of cases)
- Hypoplastic pelvisHPOHP:0008839
- Frequent (30% to 79% of cases)
- Patellar aplasiaHPOHP:0006443
- Frequent (30% to 79% of cases)
- Postaxial hand polydactylyHPOHP:0001162
- Frequent (30% to 79% of cases)
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.
- WNT7AHGNC:12786
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: Fuhrmann syndrome
- Also called
- fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndromeFuhrmann-Rieger-de Sousa syndrome