Living with Van Maldergem syndrome
A genetic condition present from infancy that affects facial features, hands, muscle tone, joints, and learning.
Understanding Van Maldergem syndrome
Key features are distinctive facial features, hand differences, moderate to severe intellectual disability, low muscle tone, and very loose joints. Signs appear in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone in infancy (floppy infant)
- Feeding difficulties
- Global developmental delay
- Moderate intellectual disability
- Small lower jaw (micrognathia)
- Webbed or bent fingers or toes
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- 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
It can be caused by changes in the DCHS1 or FAT4 genes. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: cerebro-facio-articular syndrome; cerebrofacioarticular syndrome
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 Van Maldergem syndrome.
Explore research for Van Maldergem syndrome
Explore actively recruiting Van Maldergem syndrome studies with HealthSpark.
Find actively recruiting studies for Van Maldergem 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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