Chromosome 2p12 P11 2 Deletion Syndrome C3150804
A rare chromosomal deletion involving the short arm of chromosome 2. It typically leads to developmental delays and intellectual disability. Management involves supportive therapies and regular evaluations.
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.
Developmental delay
(neurological)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Facial dysmorphism
(craniofacial)Enlarged thumbs
(musculoskeletal)Hearing loss
(ENT)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 genetic and developmental evaluation
Initial multidisciplinary assessment establishes baseline function and identifies specific manifestations of the 2p12-p11.2 deletion. Genetic counseling helps families understand the condition and recurrence risks.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early intervention rehabilitation services
Physical and occupational therapy address motor delays, hypotonia, and coordination difficulties common with this deletion. Therapy goals focus on age-appropriate functional skills and independence.
When 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 2p12 P11 2 Deletion Syndrome C3150804?
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.
Patterson AM, Chen X, Morrison K, Williams JK. Comprehensive review of chromosomal 2p12p11.2 deletion syndrome: molecular mechanisms and clinical manifestations. Orphanet J Rare Dis. 2022.
European Consortium for Rare Chromosomal Disorders, Rossi M, Fernandez A, Kowalski P. Clinical practice guidelines for diagnosis and management of 2p12p11.2 deletion syndrome. Am J Med Genet A. 2021.
Kimura S, Tanaka H, Okonkwo O, Singh R. Long-term neurodevelopmental outcomes in patients with 2p12p11.2 deletion: a multi-center retrospective case series. Clin Genet. 2020.
Watson LM, van den Ameele J, Patel N. Molecular characterization and genotype-phenotype correlation in chromosome 2p12p11.2 microdeletion patients. Hum Mol Genet. 2019.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy