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22q11.2 deletion syndrome (DiGeorge syndrome)

Also called: 22q11.2 deletion syndrome, DiGeorge syndrome

A missing piece of chromosome 22 causing heart defects, immune problems, cleft palate, and learning differences.

CommonAbout 1 in 4,000

Overview

Low calcium and frequent infections can occur.

Symptoms

Common signs:

  • Heart defect

Less common

  • Frequent infections
  • Speech delays

When to get medical care

Call 911Seizure or trouble breathing.
Get care todayNew symptoms or loss of skills.
See a doctor soonDevelopment or health concerns.

Causes

A change in genes or chromosomes, usually by chance.

Does it spread or run in families?

  • It isn't contagious. You can't catch it from someone else.
  • It can run in families. Tell your doctor if a parent, brother, or sister has it.

Who is more likely to get it

  • Family history (some types)

Possible complications

Diagnosis

A clinician asks about your symptoms and may order tests.

The exam

A physical exam.

Tests

Tests, if needed:

  • Genetic test:

Treatment

Treatment depends on the cause and how severe it is.

Self-care

  • Early intervention and therapies
  • Regular checkups with specialists
  • Connect with family support groups

Which doctor treats this

  • Start with your primary care provider (family doctor or internist).
  • They may send you to a medical geneticist (genetics doctor).

Children, pregnancy, and older adults

  • Families: Genetic counseling helps with questions about future pregnancies.

Pregnancy and breastfeeding

  • If you're pregnant or planning to be, tell your prenatal provider about this condition.
  • Don't start or stop any medicine on your own. Some are safe in pregnancy and some need to be changed.
  • Ask before taking any pain reliever. The FDA advises avoiding ibuprofen and naproxen after 20 weeks unless your doctor says to.
  • Breastfeeding: Most medicines are fine, but ask. The NIH LactMed database lists what's known about each one.

Outlook

Support helps children and adults reach their potential.

Getting ready for your visit

Bring a list of your symptoms and medicines.

What to bring

  • A list of your medicines and supplements
  • Notes on when symptoms started and what makes them better or worse

Questions to ask

  • What's causing this?
  • What treatment do you recommend?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on 22q11.2 deletion syndrome (DiGeorge syndrome)

Sources

Last updated 2026-11-12.