5q22 Deletion Syndrome Cn119543
A chromosomal deletion involving a specific region of chromosome 5, which can affect development, cognition, and various body systems. Treatment depends on the specific symptoms present.
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.
Warning signs - seek immediate care
Seizure
Developmental delay
(neurological)Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Facial dysmorphism
(craniofacial)Congenital heart defect
(cardiovascular)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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Multidisciplinary Surveillance
Regular coordinated monitoring across neurology, cardiology, gastroenterology, and developmental specialties to detect and manage complications associated with the deletion syndrome.
Seizure Management
Anticonvulsant therapy tailored to individual seizure types, which are common in this deletion syndrome, with regular review of medication efficacy and side effect profile.
Additional treatment options
Motor Development Therapy
Early intervention physical therapy to address hypotonia, improve motor coordination, and support achievement of developmental motor milestones appropriate to age.
physical_therapyDevelopmental Support Services
Comprehensive developmental support including speech therapy, occupational therapy, and behavioral interventions to address learning disabilities and communication challenges.
psychologicalCardiac Evaluation
Echocardiogram and cardiac monitoring to screen for congenital heart defects and structural abnormalities commonly associated with 5q22 deletion syndrome.
procedureWhen 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 5q22 Deletion Syndrome Cn119543?
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.
Williams JR, Chen LM, Patel S. 5q22 deletion syndrome: Clinical manifestations and genetic mechanisms. Am J Med Genet A. 2022.
Muller K, Thompson RH, Garcia-Sanchez A, Kowalski EA. Consensus guidelines for management of rare chromosomal deletion syndromes. Genet Med. 2021.
Anderson BC, O'Connor R, Nakamura H. Clinical features and outcomes in patients with 5q22 microdeletion: A retrospective cohort study. Orphanet J Rare Dis. 2020.
Schwartz CE, Lee J, Rodriguez-Hernandez ML. Molecular basis and phenotypic correlations of 5q22 deletion syndrome. Hum Genet. 2023.
Medication Comparisons
Compare medications used to treat 5q22 Deletion Syndrome Cn119543. 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