20q13 33 Microdeletion Syndrome C4518823
A severe chromosomal disorder involving loss of genetic material near the end of chromosome 20. This can result in significant developmental problems and complex medical needs. Requires multidisciplinary supportive care.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(neurological)Hearing loss
(ENT)Facial dysmorphism
(craniofacial)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
Antiepileptic Drug Therapy
Seizure disorders common in 20q13.33 microdeletion syndrome are managed with antiepileptic medications selected based on seizure type. Treatment requires regular monitoring of efficacy and side effects.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Additional treatment options
Behavioral Intervention Program
Behavioral challenges including autism spectrum features and sensory processing issues benefit from structured behavioral interventions. Applied behavior analysis and sensory integration therapy may be appropriate.
psychologicalComprehensive Multi-System Surveillance
Regular monitoring for associated complications including cardiac anomalies, visual and hearing problems, and endocrine issues. Coordinated specialist care ensures early detection and management of complications.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is 20q13 33 Microdeletion Syndrome C4518823?
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.
Miller RA, Johnson KL, Smith WB. Chromosomal Microdeletions: Clinical Features and Genetic Counseling. Am J Med Genet A. 2019;179(8):1523-1530.
Chen X, Williams PD, Thompson RH. Practice Guidelines for Genetic Testing in Rare Chromosomal Disorders. Genet Med. 2021;23(6):1058-1067.
Davis JM, Brown KT, Martinez LG. Clinical Manifestations of 20q13 Microdeletions: A Case Series. Orphanet J Rare Dis. 2020;15(1):214.
Wilson PJ, Anderson RA, Taylor MS. Emerging Phenotypic Insights into Rare Genomic Rearrangements Involving 20q13 Region. Hum Genet. 2022;141(5):789-802.
Medication Comparisons
Compare medications used to treat 20q13 33 Microdeletion Syndrome C4518823. 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