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

Rare Disease

otoonychoperoneal syndrome

MONDO:0009822

Also known as:oto-onycho-peroneal syndrome

Overview

GeneticsAutosomal recessive

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: Abnormal nail morphology, Knee flexion contracture, Macrotia, and Abnormal diaphysis morphology and others; and common findings: Dolichocephaly and Upslanted palpebral fissure. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	4	Hip contracture, Knee flexion contracture, Ankle flexion contracture

Prognosis

Phenotype severity distribution: 11 very common features, 2 common features.

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

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:259780

Orphanet

European rare disease database

Orphanet:2793

GARD

Genetic and Rare Diseases Info Center

GARD:4170

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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otoonychoperoneal 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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