Living with Velocardiofacial syndrome
A condition caused by a missing piece of chromosome 22 that can affect development, the palate, and the heart.
Understanding Velocardiofacial syndrome
GARD describes it as having varied developmental problems and schizoid features. People may have intellectual disability, low muscle tone, short stature, and palate differences. Less common features include heart blood vessel differences and low parathyroid hormone.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Low muscle tone (hypotonia)
- Short stature
- Hidden cleft in the roof of the mouth
- Air leaking into the nose when speaking
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
GARD says it is caused by a missing piece of chromosome 22 at 22q11. It lists autosomal dominant inheritance, meaning one changed copy can be enough.
Also known as: 22q11 deletion syndrome; deletion 22q11.2 syndrome; shprintzen vcf syndrome; vcf syndrome; vcf-velocardiofacial syndrome; vcfs
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 Velocardiofacial syndrome.
Explore research for Velocardiofacial syndrome
Explore actively recruiting Velocardiofacial syndrome studies with HealthSpark.
Find actively recruiting studies for Velocardiofacial 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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