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upper limb defect-eye and ear abnormalities syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

upper limb defect-eye and ear abnormalities syndrome

MONDO:0010125

Also known as:thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness

Overview

Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.

GeneticsAutosomal recessive

ResearchLimited published research (9 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: Abnormal antihelix morphology, Hearing loss (hearing impairment), Cataract, and Global developmental delay and 3 more.

Organ System	Phenotype Count	Example Features
Ears	1	Hearing loss (hearing impairment)
Eyes

Prognosis

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 upper limb defect-eye and ear abnormalities syndrome.

9 publications have been identified in PubMed for upper limb defect-eye and ear abnormalities syndrome. Research spans Review / Meta-Analysis (44%), Case Report / Case Series (33%), and Basic Science / Preclinical (11%).

Recent Publications

Ürkmez MF (2026). [PMID: 41499068](https://pubmed.ncbi.nlm.nih.gov/41499068/). *CEN Case Rep*. [Case Report / Case Series]
Conley K (2025). [PMID: 40496766](https://pubmed.ncbi.nlm.nih.gov/40496766/). *J Am Coll Emerg Physicians Open*. [Review / Meta-Analysis]
Aydin H (2025). [PMID: 40263931](https://pubmed.ncbi.nlm.nih.gov/40263931/). *Dev Neurobiol*. [Review / Meta-Analysis]
Agarwal R (2025). [PMID: 40171366](https://pubmed.ncbi.nlm.nih.gov/40171366/). *Cureus*. [Case Report / Case Series]
Leduc F (2025). [PMID: 40348827](https://pubmed.ncbi.nlm.nih.gov/40348827/). *Eur J Hum Genet*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:274205

Orphanet

European rare disease database

Orphanet:2489

GARD

Genetic and Rare Diseases Info Center

GARD:16602

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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upper limb defect-eye and ear abnormalities syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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