Overview
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome is a rare genetic condition that affects multiple parts of the body at the same time. It is sometimes referred to by its Orphanet code ORPHA:508498. People with this syndrome typically have some degree of intellectual disability, meaning they may find learning, communication, and daily tasks more challenging than others their age. The heart is also affected, with various structural heart problems (cardiac anomalies) that can range from mild to more serious. Children with this condition are often shorter than expected for their age (short stature), and their joints tend to be unusually flexible or loose (joint laxity), which can cause instability and discomfort over time. Because this is a multi-system condition, it can affect quality of life in many ways — from needing extra support in school to requiring regular heart monitoring and physical therapy. The exact features can vary from person to person, even within the same family. Treatment focuses on managing each symptom individually, since there is currently no cure. Early diagnosis and a team of specialists working together can make a big difference in helping people with this syndrome live as fully and comfortably as possible.
Also known as:
Key symptoms:
Intellectual disability (difficulty with learning and thinking skills)Heart defects present from birth (cardiac anomalies)Shorter than average height (short stature)Unusually flexible or loose joints (joint laxity)Delayed development of speech and languageDelayed motor milestones such as sitting and walkingDistinctive facial featuresLow muscle tone (hypotonia)Feeding difficulties in infancyBehavioral challenges
Clinical phenotype terms (50)— hover any for plain English
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 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Intellectual disability-cardiac anomalies-short stature-joint laxity 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-cardiac anomalies-short stature-joint laxity 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 genetic tests should we do to confirm the diagnosis and find the underlying cause?,How serious is the heart defect, and does it need surgery or just monitoring?,What therapies (speech, physical, occupational) should we start right away, and how often?,Are there any clinical trials or research studies we could participate in?,What signs should prompt us to go to the emergency room immediately?,How will this condition change as my child grows into adulthood?,Are other family members at risk, and should they be tested?
Common questions about Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
What is Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome?
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome is a rare genetic condition that affects multiple parts of the body at the same time. It is sometimes referred to by its Orphanet code ORPHA:508498. People with this syndrome typically have some degree of intellectual disability, meaning they may find learning, communication, and daily tasks more challenging than others their age. The heart is also affected, with various structural heart problems (cardiac anomalies) that can range from mild to more serious. Children with this condition are often shorter than expected
At what age does Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome typically begin?
Typical onset of Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome is neonatal. Age of onset can vary across affected individuals.