Living with 1p21.3 microdeletion syndrome
An extremely rare chromosome condition that can bring severe speech delay, learning challenges, and autism.
Understanding 1p21.3 microdeletion syndrome
People with this condition have severe speech and language delay, intellectual disability, and autism spectrum disorder. GARD lists vision differences, behavior differences, obesity, and a larger head size among the features. GARD does not list an onset age.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Global developmental delay
- Intellectual disability
- Autistic behavior
- Nearsightedness and astigmatism
- Abnormal eating behavior and obesity
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 Organization for Autism Research and other patient organizations
- 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 chromosome change, a missing piece of chromosome 1.
Also known as: del(1)(p21.3); del(1)p(21.3); monosomy 1p21.3
Patient organizations
- Organization for Autism Research1p21.3 microdeletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with 1p21.3 microdeletion syndrome.
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