Living with Non-distal trisomy 10q
A rare chromosome condition with developmental delay, slow growth, low muscle tone, and distinct facial features.
Understanding Non-distal trisomy 10q
It involves mild to moderate developmental delay, slower growth after birth, and low muscle tone. Facial features can include a small head, prominent forehead, and small, deep-set eyes. Eye differences, long slender limbs, and spine and finger or toe differences are also described. Heart defects and other birth differences have been reported. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Problems with thinking (cognitive impairment)
- Small lower jaw (micrognathia)
- Very flexible joints (joint hypermobility)
- Curved spine (scoliosis)
- Small or missing eyes (hypoplasia of the eye)
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
It is caused by a partial duplication, or extra piece, of the long arm of chromosome 10. GARD doesn't list a specific gene or how it is inherited.
Also known as: non-distal duplication 10q; non-distal trisomy type 10q; non-telomeric trisomy 10q
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 Non-distal trisomy 10q.
Explore research for Non-distal trisomy 10q
Explore actively recruiting Non-distal trisomy 10q 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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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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