Living with Xp22.13p22.2 duplication syndrome
A rare genetic condition with developmental delay, intellectual disability and short stature, mostly in males.
Understanding Xp22.13p22.2 duplication syndrome
People have developmental delay, intellectual disability, learning and behavior problems, short stature, thin and sparse hair and mild facial differences. Scoliosis, obesity and heart problems can start later. GARD says females have normal intelligence.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Moderate intellectual disability
- Moderate global developmental delay
- Low muscle tone (hypotonia)
- Short stature
- Small head size (microcephaly)
- Large testes (macroorchidism)
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 describes this as a duplication (extra copy) of part of the X chromosome. It is inherited in an X-linked way.
Also known as: dup(x)(p22.13p22.2); dup(x)(p22); duplication xp22
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 Xp22.13p22.2 duplication syndrome.
Explore research for Xp22.13p22.2 duplication syndrome
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