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oculoauricular syndrome (OCACS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculoauricular syndrome

MONDO:0012802

Also known as:OCACSSchorderet-Munier-Franceschetti syndromemicrophthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear

Overview

Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).

GeneticsAutosomal recessive · HMX1 (chr 4)

OnsetCONGENITAL

ResearchLimited published research (2 articles)

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 always present findings: Cataract, Developmental cataract, Iris coloboma, and Posterior embryotoxon and others; and common findings: Absent earlobe, Retinal detachment, Retinal coloboma, and Spina bifida occulta and others. 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	11	Retinal detachment, Retinal coloboma, Cataract

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HMX1 encodes H6 family homeobox 1 (348 aa). DNA-binding protein that binds to the 5'-CAAG-3' core sequence. May function as a transcriptional repressor. Seems to act as a transcriptional antagonist of NKX2-5. Highest expression in Testis (2.3 TPM) and Brain Hypothalamus (1.6 TPM).

Oculoauricular syndrome is caused by mutations in the HMX1 gene on chromosome 4.

HMX1 is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Genetic testing for HMX1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 24 common features.

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

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for oculoauricular syndrome.

2 publications have been identified in PubMed for oculoauricular syndrome. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Eser M (2026). [PMID: 41735262](https://pubmed.ncbi.nlm.nih.gov/41735262/). *Ophthalmic Genet*. [Case Report / Case Series]
Russo M (2025). [PMID: 40038803](https://pubmed.ncbi.nlm.nih.gov/40038803/). *Ital J Pediatr*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612109

Orphanet

European rare disease database

Orphanet:157962

GARD

Genetic and Rare Diseases Info Center

GARD:16988

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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oculoauricular syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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