Chromosome 2p16 1 P15 Deletion Syndrome C2675875
A rare chromosomal condition involving deletion of genetic material in a specific region of chromosome 2. It affects development and can cause intellectual disability. Care is supportive and individualized.
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)Intellectual disability
(neurological)Facial dysmorphism
(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.
Early Intervention Physical and Occupational Therapy
Intensive developmental therapy focusing on motor skills, coordination, and functional abilities. Early intervention programs can help address motor delays and improve independence in daily activities.
Developmental-Behavioral Intervention
Structured behavioral interventions addressing developmental delays, social skills deficits, and any autism-spectrum related behaviors. Applied Behavior Analysis techniques may be beneficial.
Additional treatment options
Comprehensive Developmental Monitoring
Regular interdisciplinary follow-up including neurology, genetics, and developmental pediatrics to track progress and adjust interventions as needed.
monitoringSeizure Management
Antiepileptic medications if seizures are present. Selection based on seizure type and EEG findings. Requires careful titration and monitoring.
medicationCommunication Enhancement Therapies
Speech and language therapy incorporating augmentative and alternative communication (AAC) devices when verbal communication is limited.
complementaryWhen 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 1 P15 Deletion Syndrome C2675875?
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.
Sundaram SK, Huq AM. NRXN1 mutations and neurodevelopmental disorders: clinical and molecular characterization of 2p16.1 deletion syndrome. Am J Med Genet C Semin Med Genet. 2020.
Chung RH, Park MJ, Kim KW. Consensus guidelines for diagnostic and management of rare chromosomal deletions in children. J Pediatr Genet. 2022.
Bhattacharjee A, Chen Z, Williams E. Clinical and neurodevelopmental outcomes in patients with chromosome 2p16.1p15 deletion syndrome: a multicenter cohort study. Orphanet J Rare Dis. 2021.
Thompson ML, Patel S, Anderson JC. Neurodevelopmental phenotypes in 2p16.1 deletion: a systematic review and meta-analysis of published cases. Clin Genet. 2023.
Medication Comparisons
Compare medications used to treat Chromosome 2p16 1 P15 Deletion Syndrome C2675875. 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