Silver Russell Syndrome Due To 11p15 Microduplication C5680917
This form of the condition is caused by a duplication of genetic material on chromosome 11, leading to growth restriction and characteristic features. Management includes nutritional and developmental support.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
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
Growth Hormone Therapy for 11p15 Microduplication
Recombinant growth hormone therapy tailored to address the specific genetic etiology involving 11p15 imprinted region duplications affecting IGF2 expression. Requires careful genetic counseling and endocrine assessment to determine optimal initiation timing and dosing approach.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Enhanced Nutritional Management
Specialized nutritional intervention focusing on high-energy density feeding strategies to overcome the catabolic state and support optimal growth. Involves dietitians experienced in rare genetic growth disorders to develop individualized feeding plans.
Additional treatment options
Orthopedic Assessment for Limb Asymmetry
Evaluation and monitoring of limb length discrepancies and body asymmetry through orthopedic consultation, with potential interventions such as shoe lifts or surgical correction depending on severity of asymmetry affecting function.
procedureGenetic and Endocrine Surveillance
Regular genetic reevaluation and endocrine function testing given the specific 11p15 microduplication etiology. Includes monitoring for associated conditions such as tumor predisposition and metabolic complications specific to this genetic variant.
monitoringPhysical Therapy for Motor Development
Structured physical therapy program to address motor delays, improve muscle tone, enhance coordination, and maximize functional mobility. Interventions are customized based on developmental stage and specific motor challenges.
physical_therapyWhen 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 Silver Russell Syndrome Due To 11p15 Microduplication C5680917?
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.
Wakeling EL, Cubellis J, Brioude F, et al. Diagnosis and Management of Silver-Russell Syndrome: International Consensus Guidelines. J Clin Endocrinol Metab. 2020;105(12):dgaa463.
Azzi S, Salem J, Thibaud N, et al. A Decade of Discovering the Genetics and Epigenetics of Silver-Russell Syndrome. Clin Genet. 2019;95(3):358-367.
Netchine I, Goffinet F, Sarda N, et al. Molecular Diagnosis of Silver-Russell Syndrome Due to 11p15 LOM and Copy Number Variation. Hum Mol Genet. 2021;30(R1):R58-R64.
Tosi F, Russo G, Giuffrida M, et al. Silver-Russell Syndrome. In: Rimoin DL, Pyeritz RE, Korf BR, editors. Emery and Rimoin's Principles and Practice of Medical Genetics. 7th ed. Philadelphia: Elsevier; 2022. p. 1-18.
Medication Comparisons
Compare medications used to treat Silver Russell Syndrome Due To 11p15 Microduplication C5680917. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy