Living with 2p13.2 microdeletion syndrome
A rare chromosome condition that can bring delayed development, learning challenges, and behavior differences.
Understanding 2p13.2 microdeletion syndrome
People with this condition have global developmental delay and intellectual disability. Behavior differences include hyperactivity, attention problems, and autistic behaviors. Other possible features are a short, wide head shape (brachycephaly), fused spine bones, mild stiffness in the knees and elbows, and feeding difficulties in infancy. GARD lists onset as the newborn and infant period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Global developmental delay
- Intellectual disability
- Hyperactivity
- Attention problems
- Autistic behaviors
- Feeding difficulties 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 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 a partial loss (monosomy) of chromosome 2, and it is listed as autosomal dominant.
Also known as: del(2)(p13.2)
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 2p13.2 microdeletion syndrome.
Explore research for 2p13.2 microdeletion syndrome
Explore actively recruiting 2p13.2 microdeletion syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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