Living with X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
A rare X-linked condition with profound learning disability, seizures, stiff joints, and heart enlargement that appears in middle age.
Understanding X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
GARD lists developmental delay with absent speech, large stiff joints, and unusual thumb positions. Heart enlargement and heart valve problems appear in middle age and can lead to heart failure. Large ears with an overfolded edge and large testes are also described. Signs begin in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Profound intellectual disability
- Global developmental delay with absent speech
- Seizures
- Stiff large joints (contractures)
- Enlarged heart
- Heart failure
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in CLIC2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the CLIC2 gene and follows X-linked inheritance.
Also known as: intellectual developmental disorder, x-linked syndromic 32, x-linked recessive; intellectual disability, x-linked, syndromic 32; intellectual disability, x-linked, syndromic type 32; mrxs32
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome.
Explore research for X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Explore actively recruiting X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome studies with HealthSpark.
Find actively recruiting studies for X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.