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coxoauricular syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

coxoauricular syndrome

MONDO:0007392

Overview

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.

GeneticsX-linked, Autosomal dominant

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Hearing loss (hearing impairment), Short stature, Hip dislocation, and Microtia and others.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Abnormal pelvic girdle bone morphology, Abnormal thigh bone (abnormal femur morphology), Low bone density (reduced bone mineral density)

Prognosis

Phenotype severity distribution: 9 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:122780

Orphanet

European rare disease database

Orphanet:1508

GARD

Genetic and Rare Diseases Info Center

GARD:1558

Questions for Your Care Team

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coxoauricular syndrome

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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