Living with Distal trisomy 2p
A rare chromosome condition with slow growth, delayed development, distinct facial features, and eye differences.
Understanding Distal trisomy 2p
The condition varies a great deal. It often involves slow growth before and after birth, global developmental delay, distinct facial features, and eye differences such as bulging eyes or underdeveloped parts of the eye. Low muscle tone, hand and foot differences, and heart, lung, neural tube, and urinary and genital differences have also been reported, as have seizures. Signs are present from the newborn period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Slow growth before and after birth
- Delays in overall development
- Eye differences
- Low muscle tone (hypotonia)
- Heart differences
- Seizures
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 eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); 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 short arm of chromosome 2.
Also known as: distal duplication 2p; distal trisomy type 2p; telomeric duplication 2p; trisomy 2pter
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 2p.
Explore research for Distal trisomy 2p
Explore actively recruiting Distal trisomy 2p studies with HealthSpark.
Find actively recruiting studies for Distal trisomy 2p with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- 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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