Overview
Cataract-intellectual disability-anal atresia-urinary defects syndrome is an extremely rare condition that has been described in medical literature under this name, though it is now considered an obsolete or outdated classification (meaning the medical community may have reclassified it or merged it with another recognized condition). As the name suggests, this syndrome was characterized by a combination of cataracts (clouding of the lens in the eye), intellectual disability, anal atresia (a birth defect where the opening to the anus is missing or blocked), and urinary tract abnormalities. These features are present from birth or early infancy. Because this condition is so rare and the classification is now obsolete, very limited information is available about its exact genetic cause, prevalence, or optimal treatment. Patients who were historically diagnosed with this syndrome may now fall under a different diagnostic category based on updated genetic testing and clinical understanding. Management has typically been supportive and symptom-based, involving surgical correction of anal atresia, cataract surgery, urological interventions, and educational support for intellectual disability. Families affected by this combination of symptoms should work closely with a clinical geneticist to obtain an updated diagnosis using modern genetic testing methods.
Also known as:
Key symptoms:
Cataracts (cloudy lenses in the eyes)Intellectual disabilityAnal atresia (blocked or absent anal opening at birth)Urinary tract abnormalitiesPossible kidney malformationsDevelopmental delaysVision problemsDifficulty with learning and reasoningPossible feeding difficulties in infancy
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Cataract-intellectual disability-anal atresia-urinary defects syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Cataract-intellectual disability-anal atresia-urinary defects 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: Cataract-intellectual disability-anal atresia-urinary defects 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
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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.Has modern genetic testing been done to confirm or update this diagnosis?,What is the best timing for cataract surgery and what visual outcomes can we expect?,What type of surgical repair is recommended for the anal atresia, and what is the long-term bowel function outlook?,How severe are the urinary tract abnormalities, and will surgery be needed?,What early intervention and developmental support services should we start?,Are there other conditions this could be reclassified as based on current medical knowledge?,Should other family members be tested genetically?
Common questions about OBSOLETE: Cataract-intellectual disability-anal atresia-urinary defects syndrome
What is OBSOLETE: Cataract-intellectual disability-anal atresia-urinary defects syndrome?
Cataract-intellectual disability-anal atresia-urinary defects syndrome is an extremely rare condition that has been described in medical literature under this name, though it is now considered an obsolete or outdated classification (meaning the medical community may have reclassified it or merged it with another recognized condition). As the name suggests, this syndrome was characterized by a combination of cataracts (clouding of the lens in the eye), intellectual disability, anal atresia (a birth defect where the opening to the anus is missing or blocked), and urinary tract abnormalities. The
At what age does OBSOLETE: Cataract-intellectual disability-anal atresia-urinary defects syndrome typically begin?
Typical onset of OBSOLETE: Cataract-intellectual disability-anal atresia-urinary defects syndrome is neonatal. Age of onset can vary across affected individuals.