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auriculoosteodysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

auriculoosteodysplasia

MONDO:0007177

Also known as:auriculo-osteodysplasiamultiple osseous dysplasia, characteristic ear shape, and short stature

Overview

Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.

GeneticsAutosomal 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: Short stature, Attached earlobe, Abnormal clavicle morphology, and Elbow dislocation and others; and common findings: Hip dysplasia. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	1	Short stature

Explore clinical features

Prognosis

Phenotype severity distribution: 6 very common features, 1 common feature.

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

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 12:37 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:109000

Orphanet

European rare disease database

Orphanet:114

GARD

Genetic and Rare Diseases Info Center

GARD:8663

Questions for Your Care Team

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auriculoosteodysplasia

Overview

Clinical Presentation

Explore clinical features

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team