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ophthalmomandibulomelic dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ophthalmomandibulomelic dysplasia

MONDO:0008127

Also known as:OMM syndromePillay syndromeOphthalmo-mandibulo-melic dysplasia

Overview

Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.

GeneticsAutosomal dominant

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: Mesomelia, Radioulnar dislocation, Elbow dislocation, and Temporomandibular joint ankylosis and others; and sometimes findings: Megalocornea and Glaucoma. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Opacification of the corneal stroma, Blindness, Glaucoma

Diagnosis

Biomarker and diagnostic research for ophthalmomandibulomelic dysplasia has been reported in the published literature.

Prognosis

Phenotype severity distribution: 17 very 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 ophthalmomandibulomelic dysplasia.

44 publications have been identified in PubMed for ophthalmomandibulomelic dysplasia. Research spans Review / Meta-Analysis (27%), Epidemiology / Natural History (20%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Research summaries	12	27%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:164900

Orphanet

European rare disease database

Orphanet:2741

GARD

Genetic and Rare Diseases Info Center

GARD:4365

Questions for Your Care Team

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ophthalmomandibulomelic dysplasia

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

ophthalmomandibulomelic dysplasia

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications