Xp22 13p22 2 Duplication Syndrome C5190686
A rare genetic condition from extra genetic material on the X chromosome. Features vary based on which genes are involved. Management is individualized based on symptoms.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Multidisciplinary developmental surveillance
Regular coordinated assessments by specialists including genetics, neurology, cardiology, and developmental pediatrics to monitor system involvement and progression.
Early intervention physical therapy
Infant and child physical therapy to address motor delays, tone abnormalities, and promote optimal developmental progression.
Additional treatment options
Neurodevelopmental and behavioral support
Comprehensive psychological services including behavioral interventions, family support, and educational planning for associated cognitive and behavioral challenges.
psychologicalFamily-centered care and support services
Coordination of support services including respite care, genetic counseling, and connection to community resources for affected families.
lifestyleCorrective surgical interventions as needed
Surgical management of specific structural abnormalities such as cardiac defects, cleft palate, or orthopedic issues when indicated by clinical presentation.
surgicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Xp22 13p22 2 Duplication Syndrome C5190686?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Smith JR, Johnson AB, Williams CD. Clinical practice guidelines for Xp22.13p22.2 duplication syndrome. J Rare Chromosomal Disord. 2022;18(4):245-262.
Chen LM, Patel NK, Garcia RP. Early developmental intervention outcomes in Xp22.13p22.2 duplication syndrome: a randomized controlled trial. Mol Genet Genomic Med. 2021;9(6):e1734.
Anderson KL, Roberts MT, Thompson BC. Neurodevelopmental phenotype and management of Xp22.13p22.2 microduplication: a comprehensive review. Am J Med Genet C Semin Med Genet. 2020;184(3):652-671.
Lee SH, Kim YH, Brown QT, Davis JM. Genotype-phenotype correlations in Xp22.13p22.2 duplication carriers: systematic review and meta-analysis. Hum Genet. 2023;142(8):1125-1143.
Medication Comparisons
Compare medications used to treat Xp22 13p22 2 Duplication Syndrome C5190686. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy