Living with Oculootodental syndrome
A rare genetic condition with very round teeth, hearing loss in high pitches, and eye differences such as coloboma.
Understanding Oculootodental syndrome
It combines otodental syndrome, with unusually large, round teeth and high-pitch inner ear hearing loss, with eye differences. These typically include coloboma, which means missing pieces of eye tissue. Sometimes there are small eyes or corneas, a cloudy lens, or other changes. GARD lists infancy as the usual time of onset.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features may include:
- Unusually large, round teeth (globodontia)
- High-frequency hearing loss from the inner ear
- Missing pieces of eye tissue (coloboma)
- Small cornea or small eyes
- Cloudy lens
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 genetic specialists and gum, teeth and mouth specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- 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 Chromosome Disorder Outreach
- 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 calls this a contiguous gene syndrome, which means it involves changes affecting several nearby genes. It doesn't list the specific genes.
Also known as: ood
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- 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 Oculootodental syndrome.
Explore research for Oculootodental syndrome
Explore actively recruiting Oculootodental syndrome studies with HealthSpark.
Find actively recruiting studies for Oculootodental syndrome with HealthSpark. Share your city to explore research near you.
- 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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