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blepharophimosis - intellectual disability syndrome, Ohdo type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

blepharophimosis - intellectual disability syndrome, Ohdo type

MONDO:0009583

Also known as:BMRS, Ohdo typeOhdo syndromeOhdo-Madokoro-Sonoda syndrome

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Overview

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

GeneticsAutosomal dominant

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (8 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 very common findings: Hearing loss (hearing impairment), Small scrotum, Blepharophimosis, and Microtia and others; and common findings: Cleft palate, Atrial septal defect, Multiple bladder diverticula, and Neonatal asphyxia. 48 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Seizure, Intellectual disability, Depressed nasal bridge

Prognosis

Phenotype severity distribution: 22 very common features, 4 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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

8 publications have been identified in PubMed for blepharophimosis - intellectual disability syndrome, Ohdo type. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (25%), and Review / Meta-Analysis (13%).

Recent Publications

Warmoeskerken T (2026). [PMID: 41821414](https://pubmed.ncbi.nlm.nih.gov/41821414/). *Am J Med Genet A*. [Epidemiology / Natural History]
Kao EC (2025). [PMID: 39215511](https://pubmed.ncbi.nlm.nih.gov/39215511/). *Am J Med Genet A*. [Case Report / Case Series]
Ura H (2025). [PMID: 39986017](https://pubmed.ncbi.nlm.nih.gov/39986017/). *Stem Cell Res*. [Basic Science / Preclinical]
Bergamasco MI (2025). [PMID: 39832706](https://pubmed.ncbi.nlm.nih.gov/39832706/). *Dev Biol*. [Basic Science / Preclinical]
Ura H (2025). [PMID: 39986018](https://pubmed.ncbi.nlm.nih.gov/39986018/). *Stem Cell Res*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:249620

Orphanet

European rare disease database

Orphanet:2728

GARD

Genetic and Rare Diseases Info Center

GARD:3348

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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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blepharophimosis - intellectual disability syndrome, Ohdo type

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

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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