Overview
Oculocerebroosseous syndrome, also sometimes called oculo-cerebro-osseous syndrome, is an extremely rare genetic condition that affects multiple body systems, primarily the eyes (oculo), the brain (cerebro), and the bones (osseous). This condition has been marked as 'obsolete' in some medical databases, meaning it may have been reclassified or merged with another diagnosis as medical understanding has advanced. The syndrome was originally described in a very small number of patients who showed a combination of eye abnormalities (such as small eyes or cataracts), brain and neurological problems (including intellectual disability and seizures), and skeletal malformations (such as abnormal bone development or joint problems). Because so few cases have ever been reported in the medical literature, knowledge about this condition remains very limited. There is no specific cure or targeted treatment for this syndrome. Management focuses on treating individual symptoms as they arise. This may include surgery for eye problems, medications for seizures, physical therapy for bone and joint issues, and educational support for developmental delays. Patients typically require care from multiple specialists working together as a team.
Also known as:
Key symptoms:
Abnormally small eyes (microphthalmia)Cataracts or clouding of the eye lensVision problems or blindnessIntellectual disabilitySeizuresDelayed developmentAbnormal bone growthJoint stiffness or contracturesShort statureSmall head size (microcephaly)Unusual facial featuresLow muscle toneThin or fragile bones
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 OBSOLETE: Oculocerebroosseous syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Oculocerebroosseous syndrome.
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 OBSOLETE: Oculocerebroosseous syndrome.
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 specific tests can help confirm this diagnosis or rule out similar conditions?,Should we pursue whole exome or whole genome sequencing to look for a genetic cause?,What therapies and early interventions should we start right away?,How should we manage and monitor seizures?,What eye treatments or surgeries might help preserve my child's vision?,Are there any clinical trials or research studies we could participate in?,What is the long-term outlook for my child, and what support services are available?
Common questions about OBSOLETE: Oculocerebroosseous syndrome
What is OBSOLETE: Oculocerebroosseous syndrome?
Oculocerebroosseous syndrome, also sometimes called oculo-cerebro-osseous syndrome, is an extremely rare genetic condition that affects multiple body systems, primarily the eyes (oculo), the brain (cerebro), and the bones (osseous). This condition has been marked as 'obsolete' in some medical databases, meaning it may have been reclassified or merged with another diagnosis as medical understanding has advanced. The syndrome was originally described in a very small number of patients who showed a combination of eye abnormalities (such as small eyes or cataracts), brain and neurological problem
How is OBSOLETE: Oculocerebroosseous syndrome inherited?
OBSOLETE: Oculocerebroosseous syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Oculocerebroosseous syndrome typically begin?
Typical onset of OBSOLETE: Oculocerebroosseous syndrome is neonatal. Age of onset can vary across affected individuals.