Overview
Oculotrichodysplasia is a very rare inherited condition that affects the eyes and hair. The name comes from the Latin and Greek words for eye (oculo), hair (tricho), and abnormal development (dysplasia). It is sometimes referred to in medical literature simply by its Orphanet code or as part of a broader group of ectodermal dysplasias — conditions where tissues that develop from the outer layer of the embryo (the ectoderm) do not form normally. The main features of this condition involve problems with the eyes, such as small eyes (microphthalmia), clouding of the lens (cataracts), or other structural eye abnormalities that can affect vision. Hair abnormalities are also a core feature — the hair may be sparse, fragile, unusually textured, or slow to grow. Some individuals may also have changes in the nails or skin, since these tissues share a similar developmental origin. Because this condition is extremely rare, the full range of symptoms and how they vary between individuals is not yet completely understood. Treatment focuses on managing specific symptoms, such as correcting vision problems with glasses, contact lenses, or surgery, and supporting hair and skin health. There is currently no cure. A clinical geneticist and a team of specialists are key to guiding care.
Also known as:
Key symptoms:
Abnormally small eyes (microphthalmia)Clouding of the eye lens (cataracts)Reduced or poor visionSparse or thin hairFragile or brittle hair that breaks easilySlow hair growthUnusual hair texture or structurePossible nail abnormalitiesPossible skin changes or dryness
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Oculotrichodysplasia.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Oculotrichodysplasia at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Oculotrichodysplasia.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Oculotrichodysplasia.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What genetic tests should we do to confirm the diagnosis and find the gene responsible?,How severe is my child's vision problem, and what treatments are available?,Will the eye problems get worse over time, and how often should we have eye check-ups?,Are other family members at risk, and should they be tested?,What support services or vision rehabilitation programs are available for my child?,Are there any clinical trials or research studies we could participate in?,What should we tell our child's school about their needs?
Common questions about Oculotrichodysplasia
What is Oculotrichodysplasia?
Oculotrichodysplasia is a very rare inherited condition that affects the eyes and hair. The name comes from the Latin and Greek words for eye (oculo), hair (tricho), and abnormal development (dysplasia). It is sometimes referred to in medical literature simply by its Orphanet code or as part of a broader group of ectodermal dysplasias — conditions where tissues that develop from the outer layer of the embryo (the ectoderm) do not form normally. The main features of this condition involve problems with the eyes, such as small eyes (microphthalmia), clouding of the lens (cataracts), or other st
How is Oculotrichodysplasia inherited?
Oculotrichodysplasia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Oculotrichodysplasia typically begin?
Typical onset of Oculotrichodysplasia is neonatal. Age of onset can vary across affected individuals.