Living with Oculodental syndrome, Rutherfurd type
A rare genetic condition with overgrown gums, teeth that do not come in, and cloudy corneas.
Understanding Oculodental syndrome, Rutherfurd type
It is mainly known for three features together: overgrown gums (gingival fibromatosis), teeth that do not come in, and corneal dystrophy with blood vessel growth and cloudiness in both eyes. Abnormally shaped teeth have also been reported. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Overgrown gums (gingival fibromatosis)
- Delayed eruption of teeth
- Abnormally shaped teeth
- Cloudy cornea (corneal opacity or dystrophy)
- Vision problems
- Trouble chewing
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, 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
- Eye disease specialists (ophthalmologists); 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 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 changes in genes cause this condition. It is inherited in an autosomal dominant way, meaning one changed copy of the gene can be enough.
Also known as: corneal dystrophy with gum hypertrophy; gingival hypertrophy corneal dystrophy; gingival hypertrophy with corneal dystrophy; gingival hypertrophy-corneal dystrophy; oculodental syndrome; rutherfurd 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 Oculodental syndrome, Rutherfurd type.
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