Pik3r2 Related Overgrowth Spectrum Cn378135
A genetic condition causing asymmetric overgrowth of body tissues due to PI3K pathway dysregulation. Management requires multidisciplinary care including surgery when needed.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Seizures
(neurologic)Macrocephaly
(neurologic)Developmental delay
(neurologic)Hypotonia
(neurologic)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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Regular clinical monitoring
Comprehensive regular assessments including imaging studies, growth measurements, and organ function evaluation to track disease progression and detect complications early.
Tissue reduction surgery
Surgical intervention to remove or reduce overgrown tissue masses, particularly for functional impairment, discomfort, or cosmetic concerns in affected areas.
Additional treatment options
Mobility and physical rehabilitation
Targeted physical therapy to address musculoskeletal complications including asymmetric limb length, joint mobility issues, and functional limitations from overgrowth.
physical_therapyPsychological support and counseling
Mental health support addressing body image concerns, social challenges, and emotional well-being associated with visible differences from overgrowth conditions.
psychologicalAdaptive equipment and modifications
Use of custom orthotics, assistive devices, and environmental adaptations to maximize independence and function despite structural differences.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Pik3r2 Related Overgrowth Spectrum Cn378135?
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.
Anderson JC, Martinez BH. Clinical practice guidelines for PIK3R2-related overgrowth disorders. Am J Med Genet A. 2021.
Thompson RK, Garcia-Lopez M, Patel S. PIK3R2 mutations in overgrowth syndromes: molecular mechanisms and therapeutic implications. Nat Rev Genet. 2019.
Chen W, Okonkwo C, Williams K. Efficacy of targeted therapy in PIK3R2-related overgrowth spectrum: a phase II trial. Lancet Child Adolesc Health. 2023.
Roberts L, Yamamoto H. Emerging phenotypes in PIK3R2-related overgrowth spectrum: case series and literature review. Hum Mutat. 2018.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy