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osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome

MONDO:0019603

Overview

Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterized by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.

ResearchLimited published research (3 articles)

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 osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome.

3 publications have been identified in PubMed for osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).

Recent Publications

Xi J (2026). [PMID: 41629993](https://pubmed.ncbi.nlm.nih.gov/41629993/). *Human genomics*. [Case Report / Case Series]
Kuhlen M (2025). [PMID: 39641826](https://pubmed.ncbi.nlm.nih.gov/39641826/). *World journal of pediatrics : WJP*. [Review / Meta-Analysis]
Padhiyar J (2024). [PMID: 38845651](https://pubmed.ncbi.nlm.nih.gov/38845651/). *Indian dermatology online journal*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:91133

Questions for Your Care Team

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osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team