Living with Ophthalmomandibulomelic dysplasia
A rare genetic condition with cloudy corneas causing blindness, a fused jaw joint, and arm differences, with normal intelligence.
Understanding Ophthalmomandibulomelic dysplasia
People have complete blindness from cloudy corneas, trouble chewing because the jaw joint is fused, and differences in the arms. A small lower jaw, shortened and bowed forearms, and other bone differences have been reported. Intelligence is normal.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cloudy corneas and blindness
- Fused jaw joint (temporomandibular joint ankylosis)
- Underdeveloped radius (forearm bone)
- Shortened limbs
- Fused forearm or wrist bones
- Hands bent toward the little finger side (club hands)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says the causative gene has not yet been identified. Autosomal dominant inheritance has been suggested.
Also known as: omm (ophthalmomandibulomelic) syndrome; omm syndrome; pillay syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ophthalmomandibulomelic dysplasia.
Explore research for Ophthalmomandibulomelic dysplasia
Explore actively recruiting Ophthalmomandibulomelic dysplasia studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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