Living with 20q13.33 microdeletion syndrome
A rare chromosome condition that can bring low muscle tone, speech and learning challenges, slow growth, and seizures.
Understanding 20q13.33 microdeletion syndrome
Features vary a lot. They typically include low muscle tone (hypotonia), intellectual disability, language problems (including little or no speech), slower growth, and feeding difficulties. Neurodevelopmental differences such as hyperactivity and autism spectrum disorder, and seizures, are often seen. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Intellectual disability
- Delayed speech and language
- Seizures
- Slow growth (growth delay)
- Not gaining weight as expected in infancy
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 changes in genes (also called variants) cause this condition. The summary describes it as a partial deletion of the long arm of chromosome 20.
Also known as: del(20)(q13.33); monosomy 20q13.33
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 20q13.33 microdeletion syndrome.
Explore research for 20q13.33 microdeletion syndrome
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