Overview
Cortical blindness-intellectual disability-polydactyly syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The three main features are cortical blindness (a type of vision loss caused by problems in the brain's visual processing area rather than the eyes themselves), intellectual disability (difficulty with learning, reasoning, and daily problem-solving), and polydactyly (having extra fingers or toes at birth). Because the brain's visual cortex does not work properly, affected individuals cannot see even though their eyes may appear normal. The intellectual disability can range from mild to severe and typically becomes apparent in early childhood as developmental milestones are delayed. The extra digits may appear on the hands, feet, or both, and can vary in size and function. This syndrome was described in only a very small number of families in the medical literature, making it one of the rarest known genetic conditions. Because so few cases have been reported, our understanding of the full range of symptoms, the exact genetic cause, and the best treatment approaches remains limited. There is currently no cure for this condition. Treatment is supportive and focuses on managing each symptom individually. This may include early intervention programs for developmental delays, special education services, mobility and orientation training for blindness, and surgical correction of extra digits if needed. A team of specialists working together provides the best care for affected individuals.
Key symptoms:
Blindness caused by brain problems rather than eye problems (cortical blindness)Intellectual disabilityExtra fingers or toes (polydactyly)Delayed developmental milestonesDifficulty with speech and languageLearning difficultiesPoor motor coordinationLack of visual response despite normal-appearing eyesBehavioral challengesSeizures (reported in some cases)
Clinical phenotype terms (14)— hover any for plain English
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 Cortical blindness-intellectual disability-polydactyly syndrome.
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Specialists
View all specialists →No specialists are currently listed for Cortical blindness-intellectual disability-polydactyly 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 Cortical blindness-intellectual disability-polydactyly syndrome.
Community
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Caregiver Resources
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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 is the severity of my child's cortical blindness, and is there any chance of partial vision improvement?,What genetic testing should we pursue to better understand the cause?,What early intervention therapies are most important to start right away?,Should the extra fingers or toes be surgically removed, and when is the best time?,Is my child at risk for seizures, and what should I watch for?,What is the expected level of independence my child may achieve?,Are there other family members who should be tested or counseled?
Common questions about Cortical blindness-intellectual disability-polydactyly syndrome
What is Cortical blindness-intellectual disability-polydactyly syndrome?
Cortical blindness-intellectual disability-polydactyly syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The three main features are cortical blindness (a type of vision loss caused by problems in the brain's visual processing area rather than the eyes themselves), intellectual disability (difficulty with learning, reasoning, and daily problem-solving), and polydactyly (having extra fingers or toes at birth). Because the brain's visual cortex does not work properly, affected individuals cannot see even though their eyes may appear normal.
How is Cortical blindness-intellectual disability-polydactyly syndrome inherited?
Cortical blindness-intellectual disability-polydactyly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cortical blindness-intellectual disability-polydactyly syndrome typically begin?
Typical onset of Cortical blindness-intellectual disability-polydactyly syndrome is neonatal. Age of onset can vary across affected individuals.