Living with Cataract - congenital heart disease - neural tube defect syndrome
A rare condition with early cataracts, heart defects, and a spinal cord difference at the base of the spine.
Understanding Cataract - congenital heart disease - neural tube defect syndrome
These include differences at the base of the spine that tether the spinal cord, holes in the heart's walls, and farsightedness. Cataracts form quickly in early childhood, and glaucoma can develop. Other features include small ears, low muscle tone, slow growth, seizures, and stiff joints. It begins in the newborn and infant years.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Its summary describes these features:
- Spinal cord tethering at the base of the spine
- Holes in the heart's walls (septal defects)
- Cataracts that worsen quickly in childhood
- Glaucoma in both eyes
- Low muscle tone and developmental delay
- Seizures
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 changes in genes cause this condition. No specific gene or inheritance pattern is listed.
Also known as: cataract-congenital heart disease-neural tube defect syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
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