Overview
Xp22.13p22.2 duplication syndrome is a very rare genetic condition caused by having an extra copy of a small piece of the short arm of the X chromosome, specifically in the region labeled p22.13 to p22.2. This extra genetic material disrupts the normal function of genes in that region, which can affect brain development and other body systems. Because the duplication is on the X chromosome, it tends to affect males more severely than females, though females who carry the duplication can also show symptoms. The main features of this syndrome include intellectual disability, developmental delays (especially in speech and language), behavioral difficulties, and sometimes distinctive facial features. Some individuals may also experience seizures, low muscle tone, or problems with coordination. The severity of symptoms can vary widely from person to person, even within the same family, depending on the exact size of the duplication and which genes are affected. There is currently no cure for this condition. Treatment focuses on managing individual symptoms and supporting development. This typically includes speech therapy, occupational therapy, physical therapy, special education services, and behavioral support. Seizures, if present, are managed with anti-seizure medications. Early intervention services can make a meaningful difference in a child's development and quality of life.
Also known as:
Key symptoms:
Intellectual disabilityDelayed speech and language developmentDelayed motor milestones like sitting and walkingLow muscle tone (feeling floppy)Behavioral problems such as hyperactivity or aggressionSeizures or epilepsyDistinctive facial featuresLearning difficultiesPoor coordination or clumsinessAttention difficultiesAnxiety or mood problemsFeeding difficulties in infancyShort stature in some cases
Clinical phenotype terms (34)— hover any for plain English
X-linked dominant
Carried on the X chromosome; a single copy can cause the condition
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Xp22.13p22.2 duplication syndrome.
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Specialists
View all specialists →No specialists are currently listed for Xp22.13p22.2 duplication syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Xp22.13p22.2 duplication syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the exact size and location of my child's duplication, and which genes are affected?,Was this duplication inherited or did it happen for the first time in my child?,Should other family members be tested for this duplication?,What therapies and early intervention services do you recommend starting right away?,What should I watch for in terms of seizures or other new symptoms?,How often should my child have developmental assessments?,Are there any research studies or clinical trials that might be relevant for this condition?
Common questions about Xp22.13p22.2 duplication syndrome
What is Xp22.13p22.2 duplication syndrome?
Xp22.13p22.2 duplication syndrome is a very rare genetic condition caused by having an extra copy of a small piece of the short arm of the X chromosome, specifically in the region labeled p22.13 to p22.2. This extra genetic material disrupts the normal function of genes in that region, which can affect brain development and other body systems. Because the duplication is on the X chromosome, it tends to affect males more severely than females, though females who carry the duplication can also show symptoms. The main features of this syndrome include intellectual disability, developmental delay
How is Xp22.13p22.2 duplication syndrome inherited?
Xp22.13p22.2 duplication syndrome follows a x-linked dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Xp22.13p22.2 duplication syndrome typically begin?
Typical onset of Xp22.13p22.2 duplication syndrome is infantile. Age of onset can vary across affected individuals.