Living with Oculodentodigital dysplasia
A genetic condition that affects the eyes, teeth, and fingers, with features that vary widely.
Understanding Oculodentodigital dysplasia
Eye features can include small eyes, cataracts, and a small cornea, which may lead to vision loss. Teeth may be missing or small with weak enamel. Fingers and toes may be bent or webbed. Face and head differences, such as a narrow nose, a small head, and cleft palate, can occur. About 30 percent of people have neurological problems. 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:
- Eye differences that can affect vision
- Weak tooth enamel and tooth differences
- Differences in the shape of fingers and nails
- Trouble coordinating movement (ataxia)
- Walking difficulty (gait disturbance)
- Calcium deposits in the brain
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 bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in GJA1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- 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 National Foundation for Ectodermal Dysplasias and other patient organizations
- 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
Changes in the GJA1 gene cause this condition. GARD lists both autosomal dominant inheritance, where one changed copy can be enough, and autosomal recessive inheritance, where a child inherits a changed copy from each parent.
Also known as: curtius' syndrome i; ectodermal dysplasia-ocular malformation syndrome; meyer-schwickerath syndrome; oculo-dento-digital dysplasia; oculodentodigital syndrome; oculodentoosseous dysplasia
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Oculodentodigital dysplasia.
Explore research for Oculodentodigital dysplasia
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