Living with Distal trisomy 5q
A rare chromosome condition with short height, intellectual disability, speech delay, and distinct facial features.
Understanding Distal trisomy 5q
People with this condition often have short height, moderate intellectual disability, and delays in speech and learning. Facial features include a small head and flat face. Heart differences, skull bones that join early (craniosynostosis), arm and hand bone differences, and genital differences are frequently seen. Signs are present from the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Craniosynostosis (skull bones joining early)
- Delayed speech and language
- Moderate intellectual disability
- Hole in the heart wall (ventricular septal defect)
- Hypospadias (urethra opening in a different place)
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 5.
Also known as: distal duplication 5q; distal trisomy 5q syndrome; distal trisomy type 5q; telomeric duplication 5q; trisomy 5qter
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 5q.
Explore research for Distal trisomy 5q
Explore actively recruiting Distal trisomy 5q studies with HealthSpark.
Find actively recruiting studies for Distal trisomy 5q 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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