Living with Distal 10q deletion syndrome
A chromosome condition caused by a missing piece at the tip of chromosome 10, with developmental delay and distinct facial features.
Understanding Distal 10q deletion syndrome
Signs vary widely, even within a family. Common features include distinct facial features, mild to moderate intellectual disability, growth problems, and developmental delay, including delayed speech and motor skills. Some people have seizures, ADHD, impulsivity, or autistic behaviors. GARD lists onset during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Distinct facial features
- Low muscle tone in infants
- Crossed eyes (strabismus)
- Behavior differences
- Bedwetting (enuresis)
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
It is caused by a deletion at 10q26, a missing piece on the long arm of chromosome 10. GARD lists autosomal dominant inheritance.
Also known as: chromosome 10q26 deletion syndrome; distal deletion 10q; distal monosomy 10q; distal monosomy type 10q; monosomy 10qter; telomeric deletion 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 Distal 10q deletion syndrome.
Explore research for Distal 10q deletion syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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