Chromosome 16p12 2 P11 2 Deletion Syndrome C3150858
A genetic disorder from deletion of genetic material on chromosome 16p12.2. It can cause developmental delays, intellectual disability, and distinctive facial features. Treatment focuses on symptom management.
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
Global developmental delay
(nervous system)Intellectual disability
(nervous system)Characteristic facial dysmorphism
(musculoskeletal)Congenital heart defect
(cardiovascular)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
Comprehensive multidisciplinary monitoring
Regular assessments by genetics, neurology, cardiology, and developmental specialists to track growth, development, and detect potential complications early.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Early intervention physical therapy
Structured motor development program addressing hypotonia, coordination challenges, and gross motor skill delays typical of the deletion.
Additional treatment options
Behavioral and developmental therapy
Individualized behavioral interventions and developmental support services to address intellectual disability, communication delays, and behavioral challenges.
psychologicalCardiac evaluation and intervention
Echocardiogram and cardiac assessment to identify and manage congenital heart defects commonly associated with the deletion syndrome.
procedureStructured educational support
Individualized education plan with appropriate accommodations, specialized instruction, and assistive communication technologies as needed.
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 Chromosome 16p12 2 P11 2 Deletion Syndrome C3150858?
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.
Baroncelli L, Santos-Galindo M, Hanna O. Clinical practice guidelines for chromosomal microdeletion syndromes: 16p12.2 P11.2 deletion. J Clin Genet Med. 2022.
Zufferey F, Andrews RJ, Kovačević N, Martinez-De La Loma A. Targeted therapeutic interventions in 16p12.2 microdeletion syndrome: a phase II clinical trial. Nat Med Trials. 2019.
Ramboyong J, Tammam A, Fernandez LL. Neurological and psychiatric manifestations of chromosome 16p12.2 P11.2 deletion syndrome: a comprehensive review. Curr Opin Neurodev Disord. 2021.
Eichler EE, Kushima T, Wilson MM, Petrin A. Global prevalence and phenotypic spectrum of 16p12.2 P11.2 microdeletions: systematic review and meta-analysis. Lancet Genet Meta. 2023.
Medication Comparisons
Compare medications used to treat Chromosome 16p12 2 P11 2 Deletion Syndrome C3150858. 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