Living with Oculoosteocutaneous syndrome
A rare genetic condition affecting the eyes, bones, skin, hair, and teeth, with short height and short fingers and toes.
Understanding Oculoosteocutaneous syndrome
People are usually shorter than average and have short fingers and toes. They may be missing some or all teeth and have thin hair and discolored skin. Eye differences can include extra rows of eyelashes, crossed eyes, and trouble seeing far away. A small head, broad nose, and small upper jaw with a large lower jaw may occur. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features may include:
- Shorter than average height
- Short fingers and toes
- Missing teeth
- Thin hair and discolored skin
- Extra rows of eyelashes and crossed eyes
- Trouble seeing far away
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 skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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
GARD says changes in genes cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: anodontia-hypotrichosis syndrome; brachymetapody anodontia hypotrichosis albinoidism; brachymetapody-anodontia-hypotrichosis-albinoidism
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 Oculoosteocutaneous syndrome.
Explore research for Oculoosteocutaneous syndrome
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