Overview
Oculocerebral dysplasia, also sometimes called Kaufman oculocerebrofacial syndrome, is an extremely rare condition that affects the development of the eyes and brain. The term 'OBSOLETE' in its classification means that this condition may have been reclassified or merged with another diagnosis in modern medical databases, but historical cases have been described in the medical literature. In the reported cases, affected individuals were born with significant abnormalities of the eyes (such as very small eyes or absent eyes), along with brain malformations that led to severe intellectual disability and developmental delays. Facial features may also be distinctive. Because so few cases have ever been reported in the medical literature, knowledge about this condition is very limited. There is no specific cure or targeted treatment available. Management has been supportive, focusing on addressing individual symptoms such as vision problems, seizures, feeding difficulties, and developmental support. Families affected by this condition benefit from working with a team of specialists to address the wide range of possible symptoms. Given the obsolete classification, patients and families should discuss with their geneticist whether a more current diagnosis or classification applies to their situation.
Also known as:
Key symptoms:
Very small or absent eyes (microphthalmia or anophthalmia)Severe intellectual disabilityBrain malformationsSeizuresDistinctive facial featuresFeeding difficulties in infancyDelayed development of motor skillsShort stature or growth problemsLow muscle toneVision loss or blindness
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: Oculocerebral dysplasia.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Oculocerebral dysplasia at this time.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Oculocerebral dysplasia.
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: Oculocerebral dysplasia.
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.Has modern genetic testing been done to confirm or update this diagnosis?,Could this condition be reclassified under a more current diagnosis?,What brain abnormalities were found on imaging, and what do they mean for my child?,What is the best plan for managing seizures?,What feeding support options are available?,Are there any clinical trials or research studies we could participate in?,What early intervention and therapy services should we start right away?
Common questions about OBSOLETE: Oculocerebral dysplasia
What is OBSOLETE: Oculocerebral dysplasia?
Oculocerebral dysplasia, also sometimes called Kaufman oculocerebrofacial syndrome, is an extremely rare condition that affects the development of the eyes and brain. The term 'OBSOLETE' in its classification means that this condition may have been reclassified or merged with another diagnosis in modern medical databases, but historical cases have been described in the medical literature. In the reported cases, affected individuals were born with significant abnormalities of the eyes (such as very small eyes or absent eyes), along with brain malformations that led to severe intellectual disabi
How is OBSOLETE: Oculocerebral dysplasia inherited?
OBSOLETE: Oculocerebral dysplasia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Oculocerebral dysplasia typically begin?
Typical onset of OBSOLETE: Oculocerebral dysplasia is neonatal. Age of onset can vary across affected individuals.