Living with Trisomy 22
A chromosome condition with an extra copy of chromosome 22 that affects the face, heart, and growth before birth.
Understanding Trisomy 22
Common features include an underdeveloped midface with a flat, broad nasal bridge, ears with pits or tags, cleft palate, wide-set eyes, a small head, heart disease present at birth, genital differences, and slow growth before birth.
Signs & symptoms
GARD doesn't list a separate symptom list. The summary describes these common features:
- Underdeveloped midface with a flat nasal bridge
- Ears with pits or tags
- Cleft palate
- Wide-set eyes (hypertelorism)
- Small head (microcephaly)
- Heart disease present at birth
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
It is caused by an extra, third copy of chromosome 22 in every cell of the body.
Also known as: complete trisomy 22 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 Trisomy 22.
Explore research for Trisomy 22
Explore actively recruiting Trisomy 22 studies with HealthSpark.
Find actively recruiting studies for Trisomy 22 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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