coxoauricular syndrome
MONDO:0007392Mondo
Findings
No curated finding names coxoauricular syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.
Definition from the Mondo Disease Ontology (MONDO:0007392), read 2026-09-29. CC BY 4.0.
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.
- Abnormal femur morphologyHPOHP:0002823
- Very frequent (80% to 99% of cases)
- Abnormal pelvic girdle bone morphologyHPOHP:0002644
- Very frequent (80% to 99% of cases)
- Atresia of the external auditory canalHPOHP:0000413
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- Hip dislocationHPOHP:0002827
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- MicrotiaHPOHP:0008551
- Very frequent (80% to 99% of cases)
- Reduced bone mineral densityHPOHP:0004349
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of