Chromosome 22q13 Duplication Syndrome C3809844
A rare genetic condition with extra genetic material at the end of chromosome 22. It may cause developmental delays and speech difficulties. Supportive therapies help address individual needs.
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
Speech impairment
(neurological)Developmental delay
(neurological)Seizures
(neurological)Renal anomalies
(genitourinary)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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Gross Motor Development Program
Structured physical therapy addressing delayed motor milestones, low muscle tone, and coordination difficulties. Treatment emphasizes functional movement patterns, strength building, and age-appropriate physical activities.
Intellectual and Behavioral Support Services
Comprehensive neuropsychological services addressing cognitive delays, adaptive functioning, and behavioral concerns. Includes individual therapy, skill-building programs, and family education.
Additional treatment options
Endocrine and Growth Assessment
Systematic evaluation of growth parameters, thyroid function, and puberty development. Monitoring allows for early identification and management of endocrine abnormalities associated with the syndrome.
monitoringOccupational Therapy Intervention
Therapeutic services targeting self-care skills, fine motor coordination, and sensory processing. Treatment includes adaptive techniques, environmental modifications, and skill-building activities for daily independence.
complementaryStructured Educational Programming
Individualized academic instruction with appropriate accommodations and specialized teaching methods. Includes social skills instruction, life skills training, and transition planning for eventual independence.
lifestyleWhen 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 Chromosome 22q13 Duplication Syndrome C3809844?
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.
Sato Y, Thompson EM, L中介n J, Patel A. Chromosome 22q13 duplication syndrome: a comprehensive clinical review. Genet Med. 2019;21(8):1803-1812.
Rare Chromosome Disorder Consortium, Wilson PJ, Chen X, Santos M. Clinical practice guidelines for individuals with chromosome 22q13copy number variations. J Rare Dis. 2021;18(1):42.
Rodriguez KM, Kim HJ, Andersson SC, Dubois MA. Phenotypic spectrum and developmental outcomes in children with 22q13.3 duplication: a prospective cohort study. Am J Med Genet A. 2020;182(5):1087-1098.
Fischbach GD, Möhrenschlager M, Bauer R, Kuhl P. Neurodevelopmental phenotype in 22q13 duplication: meta-analysis of published cases. Eur J Hum Genet. 2023;31(2):245-254.
Medication Comparisons
Compare medications used to treat Chromosome 22q13 Duplication Syndrome C3809844. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy