Overview
Intellectual disability-cataracts-kyphosis syndrome is an extremely rare condition that has been described in medical literature but is now considered an obsolete diagnostic category in Orphanet, meaning it may have been reclassified, merged with another condition, or found to not represent a distinct disease entity. As the name suggests, the syndrome was originally characterized by a combination of intellectual disability (difficulty with learning and reasoning), cataracts (clouding of the lens of the eye leading to vision problems), and kyphosis (an abnormal forward rounding of the upper back or spine). These three features together were thought to define a unique syndrome. Because this condition has been marked as obsolete, patients who were previously diagnosed with this syndrome may now fall under a different or updated diagnosis. If you or a family member received this diagnosis, it is important to consult with a clinical geneticist who can review the case with current knowledge and potentially reclassify the condition. Treatment has generally been supportive, focusing on managing each symptom individually — such as surgery for cataracts, physical therapy or bracing for kyphosis, and educational support for intellectual disability.
Key symptoms:
Intellectual disability or learning difficultiesCataracts (cloudy lenses in the eyes)Kyphosis (rounded or hunched upper back)Delayed developmental milestonesVision problems or blurry visionBack pain or stiffnessDifficulty with daily tasks requiring reasoning
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Intellectual disability-cataracts-kyphosis 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: Intellectual disability-cataracts-kyphosis 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.Since this diagnosis is now considered obsolete, does my condition fit a currently recognized syndrome?,Would genetic testing help identify a more specific diagnosis?,What is the best treatment plan for the cataracts — is surgery recommended now or should we wait?,How should we monitor and manage the kyphosis over time?,What educational and developmental support services are available?,Are there any clinical trials or research studies that might be relevant?,What specialists should be part of the ongoing care team?
Common questions about OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome
What is OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome?
Intellectual disability-cataracts-kyphosis syndrome is an extremely rare condition that has been described in medical literature but is now considered an obsolete diagnostic category in Orphanet, meaning it may have been reclassified, merged with another condition, or found to not represent a distinct disease entity. As the name suggests, the syndrome was originally characterized by a combination of intellectual disability (difficulty with learning and reasoning), cataracts (clouding of the lens of the eye leading to vision problems), and kyphosis (an abnormal forward rounding of the upper bac
At what age does OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome typically begin?
Typical onset of OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome is childhood. Age of onset can vary across affected individuals.