Living with Distal trisomy 6p
A rare chromosome condition with slow growth, a small head, delayed development, and distinct facial features, mostly around the eyes.
Understanding Distal trisomy 6p
People with this condition grow slowly before and after birth and have a small head and delayed development. The summary notes a pattern of facial features, mostly around the eyes. Some have eye movement or eyelid differences. Heart, lung, kidney, and eye differences have also been reported. Signs begin during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in overall development
- Crossed eyes (strabismus)
- Drooping upper eyelid (ptosis)
- Rapid, involuntary eye movements (nystagmus)
- Small lower jaw (micrognathia)
- Fine hair and dry skin
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 the short arm of chromosome 6.
Also known as: distal duplication 6p; distal trisomy 6p syndrome; distal trisomy type 6p; telomeric duplication 6p; trisomy 6pter
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 6p.
Explore research for Distal trisomy 6p
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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