Living with Non-distal monosomy 10q
A rare chromosome condition with developmental delays, especially in speech and language, and learning and behavior differences.
Understanding Non-distal monosomy 10q
It varies widely from person to person. It mainly involves developmental delays, usually in speech and language, differences in thinking, and behavior conditions such as autism spectrum disorder and attention deficit disorder. A large head size and mild differences in facial features may also occur. It can overlap with Cowden syndrome and juvenile polyposis syndrome. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Trouble coordinating movement (ataxia)
- Difference in walking pattern (gait disturbance)
- Problems with thinking (cognitive impairment)
- Crossed eyes (strabismus)
- Skin folds at the inner corners of the eyes (epicanthus)
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 deletion, or missing 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 deletion 10q; non-distal monosomy type 10q; non-telomeric monosomy 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 monosomy 10q.
Explore research for Non-distal monosomy 10q
Explore actively recruiting Non-distal monosomy 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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