humerofemoral hypoplasia with radiotibial ray deficiency
MONDO:0060733Mondo
Findings
No curated finding names humerofemoral hypoplasia with radiotibial ray deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Antenatal onset
HPO, annotations 2026-09-02
Features
9 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.
- Absent thumbHPOHP:0009777
- 3 of 4 reported patients
- Bilateral talipes equinovarusHPOHP:0001776
- 1 of 4 reported patients
- Bowed humerusHPOHP:0003865
- 1 of 4 reported patients
- Congenital diaphragmatic herniaHPOHP:0000776
- 1 of 4 reported patients
- Elbow flexion contractureHPOHP:0002987
- 1 of 4 reported patients
- Hypoplastic pelvisHPOHP:0008839
- 1 of 4 reported patients
- Hypoplastic scapulaeHPOHP:0000882
- 1 of 4 reported patients
- Prominent glabellaHPOHP:0002057
- 1 of 4 reported patients
- RetrognathiaHPOHP:0000278
- 1 of 4 reported patients
Where it sits
- A kind of