Overview
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is an extremely rare genetic condition that primarily affects males. This disorder is characterized by a combination of intellectual disability (difficulty with learning, reasoning, and problem-solving) and serious heart problems, specifically cardiomegaly (an enlarged heart) and congestive heart failure (where the heart cannot pump blood effectively). Because the condition is X-linked, it is passed through families via the X chromosome, meaning mothers can be carriers while their sons are most often affected. The intellectual disability in this condition can range from mild to severe and is usually noticed in early childhood when developmental milestones such as speech and motor skills are delayed. The heart problems can develop during childhood or later and may progressively worsen over time. Congestive heart failure can cause symptoms like shortness of breath, fatigue, swelling in the legs and feet, and difficulty with physical activity. There is currently no cure for this syndrome. Treatment focuses on managing symptoms, particularly the heart-related complications. Medications commonly used for heart failure, such as ACE inhibitors, beta-blockers, and diuretics, may be prescribed. Educational support and therapies for intellectual disability, including speech therapy and occupational therapy, are also important parts of care. Because this condition is so rare, management is typically guided by a team of specialists working together.
Key symptoms:
Intellectual disabilityEnlarged heart (cardiomegaly)Congestive heart failureShortness of breathFatigue and low energySwelling in the legs, ankles, or feetDelayed speech developmentDelayed motor milestonesDifficulty with learningPoor exercise toleranceRapid or irregular heartbeatDifficulty gaining weight or poor growth
Clinical phenotype terms (30)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome.
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Specialists
View all specialists →No specialists are currently listed for X-linked intellectual disability-cardiomegaly-congestive heart failure 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 X-linked intellectual disability-cardiomegaly-congestive heart failure 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.How severe is my child's heart enlargement, and what does this mean for their long-term health?,What medications will be needed, and what side effects should I watch for?,How often should heart function be monitored with echocardiograms?,What developmental therapies and educational supports do you recommend?,Are there any activity restrictions my child should follow?,Should other family members be tested for this condition or carrier status?,Are there any clinical trials or research studies we could participate in?
Common questions about X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
What is X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome?
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is an extremely rare genetic condition that primarily affects males. This disorder is characterized by a combination of intellectual disability (difficulty with learning, reasoning, and problem-solving) and serious heart problems, specifically cardiomegaly (an enlarged heart) and congestive heart failure (where the heart cannot pump blood effectively). Because the condition is X-linked, it is passed through families via the X chromosome, meaning mothers can be carriers while their sons are most often affected. The
How is X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome inherited?
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome typically begin?
Typical onset of X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is childhood. Age of onset can vary across affected individuals.