Living with Chromosome 22q11.2 deletion syndrome, distal
A rare condition from a missing piece of chromosome 22 that affects growth, speech and learning, and sometimes the heart.
Understanding Chromosome 22q11.2 deletion syndrome, distal
Features include early birth, slow growth before and after birth, developmental delay (especially speech), mild intellectual disability, varied heart defects, and minor skeletal differences. About half of people have facial differences. For some very distal deletions that include the SMARCB1 gene, there is a risk of rhabdoid tumors. Most deletions occur new in the person (de novo). GARD lists onset during pregnancy and at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Small head size (microcephaly)
- Absent fingernails or toenails
- Deep-set eyes and highly arched eyebrows
- Flat feet
- Differences in the earlobes
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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 Chromosome Disorder Outreach
- 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 results from a partial deletion on the long arm of chromosome 22 outside the DiGeorge critical region. Most deletions are de novo, meaning new in the person.
Also known as: 22q11.2 distal deletion syndrome; distal 22q11.2 microdeletion syndrome; distal del(22)(q11.2); distal monosomy 22q11.2
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- 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 Chromosome 22q11.2 deletion syndrome, distal.
Explore research for Chromosome 22q11.2 deletion syndrome, distal
Explore actively recruiting Chromosome 22q11.2 deletion syndrome, distal studies with HealthSpark.
Find actively recruiting studies for Chromosome 22q11.2 deletion syndrome, distal 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 Chromosome 22q11.2 deletion syndrome, distal 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 Chromosome 22q11.2 deletion syndrome, distal
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 Chromosome 22q11.2 deletion syndrome, distal 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.