Living with Oculocerebrocutaneous syndrome
A rare genetic condition with differences in the eyes, skin, and brain, described mostly in males.
Understanding Oculocerebrocutaneous syndrome
Findings can include cysts around the eye, areas of missing or underdeveloped skin, and a missing or small band of nerve fibers joining the two halves of the brain (corpus callosum). Diagnosis is confirmed with specific MRI findings. About half have seizures, and developmental delay and intellectual disability can range from mild to profound. In most cases the person is the first in the family with the condition. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Intellectual disability
- Areas of missing or underdeveloped skin
- Small or missing corpus callosum in the brain
- Eyelid coloboma (cleft eyelid) and drooping eyelids
- Extra fluid in the brain (hydrocephalus)
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 brain and nervous system specialists, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 Epilepsy Foundation
- 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 the exact cause is not known. In most cases the affected person is the first in the family to have it.
Also known as: delleman syndrome; delleman-oorthuys syndrome; leichtman-wood-rohn syndrome; occs; orbital cyst with cerebral and focal dermal malformations
Patient organizations
- Epilepsy FoundationEpilepsy · 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 Oculocerebrocutaneous syndrome.
Explore research for Oculocerebrocutaneous syndrome
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