Living with Distal trisomy 1p36
A rare chromosome condition with mild learning and developmental delays and early joining of skull bones.
Understanding Distal trisomy 1p36
People with this condition usually have borderline to mild intellectual disability and mild developmental delay. A key feature is metopic craniosynostosis, where a skull bone joins too early. Mild facial differences can occur. Other possible features are slow growth, a small head, large hands, joined fingers, extra ribs, and heart or bowel and anus differences. Signs show up in the newborn and infant years.
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Borderline to mild intellectual disability
- Mild delays in development
- Early joining of a skull bone (metopic craniosynostosis)
- Slow growth
- Small head size (microcephaly)
- Heart 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 1.
Also known as: distal duplication 1p36; distal trisomy 1p36 syndrome; distal trisomy type 1p36; telomeric duplication 1p36; trisomy 1pter
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 1p36.
Explore research for Distal trisomy 1p36
Explore actively recruiting Distal trisomy 1p36 studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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