Living with 22q11.2 deletion syndrome
A genetic condition that can affect the heart, immune system, palate, speech, and learning.
Understanding 22q11.2 deletion syndrome
It can affect almost any part of the body, and features vary widely, even in one family. People often have heart differences from birth, repeated infections from immune system problems, and distinct facial features. A submucosal cleft palate can cause nasal-sounding speech. Other possible features include low blood calcium, low platelets, feeding difficulties, hearing loss, and developmental delays. GARD lists onset as any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart differences, often from birth
- Cleft palate
- Repeated ear infections
- Anxiety
- Attention deficit (ADHD)
- Conductive hearing loss
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 allergy and immune system specialists, brain and nervous system specialists, digestive system specialists and ear, nose, and throat specialists.
- 3Consider genetic testing
Changes in TBX1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
International 22q11.2 Foundation, World Craniofacial Foundation and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Ear, nose, and throat specialists (otolaryngologists)
- Expert care
- Expert lists: International 22q11.2 Foundation, World Craniofacial Foundation, Immune Deficiency Foundation
- 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 International 22q11.2 Foundation and other patient organizations
- 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
Changes in the TBX1 gene are listed. It is caused by deleting a small piece of chromosome 22 and is listed as autosomal dominant.
Also known as: 22q11ds; catch 22; cayler cardiofacial syndrome; chromosome 22q11.2 deletion syndrome; conotruncal anomaly face syndrome; digeorge sequence
Patient organizations
- International 22q11.2 Foundation22q11.2 deletion syndrome · United States
- 22q Family Foundation22q11.2 deletion syndrome · United States
- Pull-thru Network22q11.2 deletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with 22q11.2 deletion syndrome.
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