Living with 9q31.1q31.3 microdeletion syndrome
A rare genetic condition that can bring mild learning challenges, short height with higher weight, and a short neck.
Understanding 9q31.1q31.3 microdeletion syndrome
It brings mild intellectual disability, short stature with a high body mass index, and a short neck. Distinct facial features are part of it. A metabolic syndrome, including type 2 diabetes, high cholesterol, and high blood pressure, has also been reported. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Mild intellectual disability
- Short stature
- Overweight
- Type 2 diabetes
- High blood pressure
- Short neck
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 brain and nervous system 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
- Brain and nervous system specialists (neurologists); 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 genes (also called variants) cause this condition. The summary describes it as a missing piece (microdeletion) of chromosome 9.
Also known as: del(9)(q31.1q31.3); monosomy 9q31.1q31.3
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 9q31.1q31.3 microdeletion syndrome.
Explore research for 9q31.1q31.3 microdeletion syndrome
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