Living with Distal trisomy 22q
A rare chromosome condition with learning and developmental delays, slow growth, low muscle tone, and distinct facial features.
Understanding Distal trisomy 22q
People with this condition may have intellectual disability and developmental delay that range from mild to more significant. Growth is slow before and after birth, and muscle tone is low. Facial features can include a small head and a cleft lip or palate. Heart, brain, bone, kidney, and genital differences have also been reported. Signs begin during pregnancy or in the newborn period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Intellectual disability
- Delays in development
- Slow growth
- Low muscle tone (hypotonia)
- Small head size (microcephaly)
- Cleft lip or palate
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 changes in a person's genes cause this condition. The summary describes it as an extra copy of part of the long arm of chromosome 22.
Also known as: distal duplication 22q; distal trisomy 22q syndrome; distal trisomy type 22q; telomeric duplication 22q; trisomy 22qter
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 Distal trisomy 22q.
Explore research for Distal trisomy 22q
Explore actively recruiting Distal trisomy 22q studies with HealthSpark.
Find actively recruiting studies for Distal trisomy 22q 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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