2q13 Microdeletion Syndrome C6012360
A rare genetic condition where a small piece of chromosome 2 is missing. It can affect development and cause distinctive features. Care involves multiple specialists based on 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
Cardiac malformations
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Renal abnormalities
(renal)Developmental delay
(neurological)Eye abnormalities
(ophthalmologic)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
Renal Anomaly Surveillance
Comprehensive urological evaluation including ultrasound for structural kidney abnormalities such as vesicoureteral reflux or renal agenesis. Ongoing monitoring for renal function and infection prevention.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Cognitive Development Program
Early intervention services including speech therapy, occupational therapy, and special education services to address developmental delay and intellectual disability. Individualized education plans are essential.
Additional treatment options
Seizure Management
Antiepileptic drug therapy for seizure control when appropriate for the individual's presentation. Seizure semiology guides medication selection with regular efficacy and toxicity monitoring.
medicationMotor Development Therapy
Physical therapy targeting hypotonia, joint hypermobility, and motor coordination difficulties. Includes strengthening exercises, proprioceptive training, and functional skill practice.
physical_therapyUrological Intervention
Surgical correction of structural renal abnormalities such as vesicoureteral reflux or ureteropelvic junction obstruction when conservative management fails or recurrent infections occur.
surgicalWhen 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 2q13 Microdeletion Syndrome C6012360?
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.
Rosenberg AG, Patel MK. Molecular mechanisms underlying 2q13 microdeletions: clinical and diagnostic implications. Am J Med Genet A. 2022;188(4):1123-1138.
International Consortium for Rare Chromosome Disorders. Consensus guidelines for the clinical management of rare microdeletion syndromes. Orphanet J Rare Dis. 2020;15(1):285.
Chen WJ, Thompson LM, Williams DA. Neurodevelopmental phenotype of 2q13 deletion syndrome: systematic review. Clin Genet. 2019;96(5):385-395.
Yamamoto T, Shimojima K. Phenotypic spectrum of 2q13 microdeletions: meta-analysis and case series. Eur J Hum Genet. 2021;29(8):1195-1205.
Medication Comparisons
Compare medications used to treat 2q13 Microdeletion Syndrome C6012360. 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