Overview
Dwarfism-intellectual disability-eye abnormality syndrome is an extremely rare genetic condition that has been described in only a very small number of individuals in the medical literature. This condition is now classified as 'obsolete' in medical databases, meaning it may have been reclassified, merged with another diagnosis, or its original description may no longer be considered a distinct syndrome based on updated genetic and clinical understanding. As originally described, this syndrome was characterized by a combination of short stature (dwarfism), intellectual disability, and various eye (ocular) abnormalities. Affected individuals typically showed noticeably reduced growth compared to their peers, learning difficulties of varying severity, and problems with their eyes that could affect vision. Because so few cases were ever reported, the full range of symptoms and the underlying genetic cause were never well established. If you or a family member has been given this diagnosis or a similar description of symptoms, it is important to work with a clinical geneticist who can use modern genetic testing tools to look for a more precise and up-to-date diagnosis. Advances in genetic testing, particularly whole exome and whole genome sequencing, have allowed many previously unclassified or obsolete syndromes to be reclassified under better-understood conditions. Treatment is generally supportive and tailored to the individual symptoms present.
Also known as:
Key symptoms:
Short stature or dwarfismIntellectual disability or learning difficultiesEye abnormalitiesVision problemsDelayed growth in childhoodDelayed developmental milestones
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 OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Dwarfism-intellectual disability-eye abnormality 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: Dwarfism-intellectual disability-eye abnormality 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.Is modern genetic testing available that could give us a more specific or updated diagnosis?,What type of eye abnormalities are present and how should they be monitored or treated?,Would growth hormone therapy be appropriate for the short stature?,What developmental therapies would benefit my child the most right now?,Are there any related conditions we should be tested for?,What is the expected developmental trajectory, and how can we best support learning?,Are there any clinical trials or research studies we could participate in?
Common questions about OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome
What is OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome?
Dwarfism-intellectual disability-eye abnormality syndrome is an extremely rare genetic condition that has been described in only a very small number of individuals in the medical literature. This condition is now classified as 'obsolete' in medical databases, meaning it may have been reclassified, merged with another diagnosis, or its original description may no longer be considered a distinct syndrome based on updated genetic and clinical understanding. As originally described, this syndrome was characterized by a combination of short stature (dwarfism), intellectual disability, and various
At what age does OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome typically begin?
Typical onset of OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome is neonatal. Age of onset can vary across affected individuals.