Overview
Cataract-congenital heart disease-neural tube defect syndrome is an extremely rare condition that affects multiple body systems at the same time. As the name suggests, people born with this syndrome typically have three main features: cataracts (clouding of the lens in one or both eyes, which can cause vision problems), congenital heart defects (heart problems present from birth), and neural tube defects (problems with the development of the brain or spinal cord that occur very early in pregnancy). Because this syndrome involves several different organ systems, it is classified as a multi-system disorder. The exact cause of this syndrome is not well understood, and very few cases have been described in the medical literature. Because of its rarity, there is limited information about the full range of symptoms, the underlying genetic mechanism, and the long-term outlook. Treatment is generally focused on managing each individual problem — for example, surgery for cataracts, cardiac procedures for heart defects, and supportive care or surgical repair for neural tube defects. A team of specialists is usually needed to provide comprehensive care. Early diagnosis and intervention for each component of the syndrome can help improve quality of life and outcomes for affected individuals.
Key symptoms:
Cloudy or white appearance in one or both eyes (cataracts)Vision problems or blindness from birthHeart defects present at birthSpina bifida or other spinal cord defectsBrain abnormalities related to neural tube closureFeeding difficulties in infancyDelayed growth or developmentBreathing difficulties related to heart problemsPoor weight gainPossible intellectual disability or learning difficulties
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Cataract-congenital heart disease-neural tube defect syndrome.
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Specialists
View all specialists →No specialists are currently listed for Cataract-congenital heart disease-neural tube defect 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 Cataract-congenital heart disease-neural tube defect 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 type and severity of heart defect does my child have, and will surgery be needed?,When should cataract surgery be performed, and what is the expected visual outcome?,What type of neural tube defect is present, and what surgeries or treatments are recommended?,Is genetic testing recommended, and could this condition affect future pregnancies?,What developmental milestones should we watch for, and when should we seek early intervention?,How often will my child need follow-up appointments with each specialist?,Are there any clinical trials or research studies that might be relevant for my child?
Common questions about Cataract-congenital heart disease-neural tube defect syndrome
What is Cataract-congenital heart disease-neural tube defect syndrome?
Cataract-congenital heart disease-neural tube defect syndrome is an extremely rare condition that affects multiple body systems at the same time. As the name suggests, people born with this syndrome typically have three main features: cataracts (clouding of the lens in one or both eyes, which can cause vision problems), congenital heart defects (heart problems present from birth), and neural tube defects (problems with the development of the brain or spinal cord that occur very early in pregnancy). Because this syndrome involves several different organ systems, it is classified as a multi-syst
At what age does Cataract-congenital heart disease-neural tube defect syndrome typically begin?
Typical onset of Cataract-congenital heart disease-neural tube defect syndrome is neonatal. Age of onset can vary across affected individuals.