Overview
Intellectual disability-short stature-hypertelorism syndrome is an extremely rare genetic condition that affects multiple parts of the body. The syndrome is sometimes referred to by its Orphanet designation (ORPHA:3074). People with this condition typically have intellectual disability (which can range from mild to moderate), shorter-than-average height (short stature), and widely spaced eyes (hypertelorism). Additional features may include distinctive facial characteristics, skeletal differences, and sometimes other developmental concerns. Because this syndrome is so rare, it has been described in only a very small number of individuals or families in the medical literature. The exact genetic cause has not been fully established in all reported cases, which makes diagnosis challenging. Doctors typically identify the condition based on the combination of clinical features rather than a single definitive test. There is currently no cure for this syndrome. Treatment focuses on managing individual symptoms and supporting development. This may include special education services, speech and occupational therapy, growth monitoring, and regular check-ups with various specialists. Early intervention programs can help children reach their full potential. The overall treatment landscape is supportive and multidisciplinary, aiming to improve quality of life and functional independence.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesShort stature or slow growthWidely spaced eyes (hypertelorism)Distinctive facial featuresDelayed developmental milestonesSpeech and language delaysPossible skeletal abnormalitiesSmall head size in some casesLow muscle tone in some casesBehavioral challenges in some individuals
Clinical phenotype terms (9)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Intellectual disability-short stature-hypertelorism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Intellectual disability-short stature-hypertelorism 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 Intellectual disability-short stature-hypertelorism 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 is the likely genetic cause of my child's condition, and should we pursue further genetic testing?,What therapies and early intervention services do you recommend starting right away?,Should my child be evaluated for growth hormone deficiency?,What educational supports should we request from the school system?,Are there other family members who should be tested?,How often should we schedule follow-up visits with each specialist?,Are there any clinical studies or research programs we could participate in?
Common questions about Intellectual disability-short stature-hypertelorism syndrome
What is Intellectual disability-short stature-hypertelorism syndrome?
Intellectual disability-short stature-hypertelorism syndrome is an extremely rare genetic condition that affects multiple parts of the body. The syndrome is sometimes referred to by its Orphanet designation (ORPHA:3074). People with this condition typically have intellectual disability (which can range from mild to moderate), shorter-than-average height (short stature), and widely spaced eyes (hypertelorism). Additional features may include distinctive facial characteristics, skeletal differences, and sometimes other developmental concerns. Because this syndrome is so rare, it has been descri
At what age does Intellectual disability-short stature-hypertelorism syndrome typically begin?
Typical onset of Intellectual disability-short stature-hypertelorism syndrome is childhood. Age of onset can vary across affected individuals.