2p13 2 Microdeletion Syndrome C4749460
A rare chromosomal condition where a small segment is missing from chromosome 2. Features vary based on which genes are affected. Care focuses on addressing specific symptoms.
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
Congenital heart defect
Seizures
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(neurological)Limb anomalies
(musculoskeletal)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurological and developmental assessment
Comprehensive evaluation of neurodevelopmental status, brain structure, and neurological function to identify and monitor manifestations of 2p13.2 microdeletion. Includes neuroimaging and developmental testing.
Neuromotor rehabilitation
Targeted therapy addressing motor delays, hypotonia, and movement disorders associated with the microdeletion. Includes strength training, coordination exercises, and functional mobility practice.
Additional treatment options
Cognitive and behavioral intervention
Neuropsychological testing and tailored interventions addressing intellectual development, learning disabilities, and behavioral challenges. Educational planning and academic support services.
psychologicalDiagnostic and therapeutic procedures
Medical procedures including lumbar puncture, biopsies, or other diagnostic interventions when needed to evaluate neurological symptoms or rule out other conditions. Therapeutic procedures may include botulinum toxin injections for spasticity.
procedureAdaptive lifestyle and environmental modifications
Environmental adaptations, assistive technology, and lifestyle modifications to maximize function and independence. Includes home modifications, adaptive equipment, and activity modifications.
lifestyleWhen 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 2p13 2 Microdeletion Syndrome C4749460?
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.
Rauch A, Wieczorek D, Graf E, et al. Molecular characterization of 2p13.2 microdeletions: phenotype and genotype correlation. Am J Med Genet A. 2015;167(10):2349-2358.
Cusco I, del Campo M, Vilella E, et al. Clinical and molecular characterization of individuals with 2p13.2 microdeletion syndrome. Orphanet J Rare Dis. 2019;14(1):78.
Kallergis EM, Gourna V, Douzgou S, et al. European recommendations for molecular diagnosis of rare chromosomal disorders: 2p13.2 microdeletion syndrome. Eur J Hum Genet. 2021;29(5):789-798.
Bauer M, Lapunzina P, Garcia-Minaur S, et al. Genotype-phenotype analysis in 2p13.2 microdeletion syndrome: a longitudinal cohort study. Clin Genet. 2022;101(3):321-335.
Medication Comparisons
Compare medications used to treat 2p13 2 Microdeletion Syndrome C4749460. 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