Living with Chromosome 3q13.31 deletion syndrome
A missing piece of chromosome 3 with significant developmental delay, low muscle tone, and distinct facial features.
Understanding Chromosome 3q13.31 deletion syndrome
Features vary but mainly include significant developmental delay, growth above average after birth, low muscle tone, and distinct facial features. Skeletal differences and differences in the male genitals are frequently present. GARD lists onset during pregnancy and at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Larger head size (macrocephaly)
- Missing corpus callosum in the brain
- Eye folds (epicanthus)
- Long philtrum
- Joint stiffness and hand differences
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 it results from a partial deletion of the long arm of chromosome 3 at q13.31. It is listed as autosomal dominant.
Also known as: 3q13 microdeletion syndrome; del(3)(q13); monosomy 3q13
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 Chromosome 3q13.31 deletion syndrome.
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