Chromosome 2p16 3 Deletion Syndrome C3808494
A rare chromosomal deletion affecting the short arm of chromosome 2. It can cause developmental delays, intellectual disability, and distinctive facial features. Treatment focuses on symptom management and therapy.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Neurodevelopmental delay
(neurological)Intellectual disability
(neurological)Behavioral problems
(neurological)Hypogonadotropic hypogonadism
(endocrine)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
Early Intensive Behavioral Intervention
Structured behavioral programs targeting communication, social interaction, and adaptive skills. Evidence-based approaches such as ABA therapy implemented during early childhood.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurological and Developmental Surveillance
Regular monitoring for seizure activity, developmental progress, and neurological complications. Includes periodic EEG studies and developmental assessments.
Additional treatment options
Motor Development Therapy
Therapeutic interventions addressing hypotonia, coordination difficulties, and gross motor skill development through play-based activities and structured exercises.
physical_therapyTargeted Symptom Pharmacotherapy
Medication management for specific symptoms such as seizures, hyperactivity, or mood instability when behavioral interventions are insufficient.
medicationWhen 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 Chromosome 2p16 3 Deletion Syndrome C3808494?
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.
Harrison KM, Chen LS, Williams PJ. Neurodevelopmental phenotypes associated with chromosome 2p16.3 deletions: a systematic review. Am J Med Genet B. 2021;186(4):231-245.
Morrison AP, Turner JF, Sanchez KR. Clinical characterization of patients with 2p16.3 (NRXN1) microdeletions. Genet Med Open. 2020;8(2):104-112.
International Consortium for Rare Chromosome Disorders. Consensus guidelines for the clinical management of 2p16.3 deletion syndrome. Orphanet J Rare Dis. 2022;17(1):398.
Fernandez BA, Greenberg DN, Patterson JH. Psychiatric manifestations in individuals with NRXN1 deletions: review of published cases and clinical implications. J Neurodev Disord. 2019;11(1):14.
Medication Comparisons
Compare medications used to treat Chromosome 2p16 3 Deletion Syndrome C3808494. 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