Living with Distal trisomy 7p
A rare chromosome condition with significant delays in development, low muscle tone, and distinct facial features.
Understanding Distal trisomy 7p
People with this condition often have severe to profound delays in development and intellectual disability, along with low muscle tone. Head and facial features can include a large soft spot (fontanel), a broad forehead, and a small lower jaw. Differences in the heart, digestive system, bones, and urinary and genital systems are commonly 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:
- Severe to profound delays in development
- Intellectual disability
- Low muscle tone (hypotonia)
- Distinct head and facial features
- Heart or digestive differences
- Bone or urinary differences
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 short arm of chromosome 7.
Also known as: distal duplication 7p; distal trisomy 7p syndrome; distal trisomy type 7p; telomeric duplication 7p; trisomy 7pter
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 7p.
Explore research for Distal trisomy 7p
Explore actively recruiting Distal trisomy 7p studies with HealthSpark.
Find actively recruiting studies for Distal trisomy 7p 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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