Silver Russell Syndrome Due To An Imprinting Defect Of 11p15 C5680916
A genetic condition involving abnormal gene expression that leads to growth restriction before birth. It affects children and requires multidisciplinary care including hormone treatment and feeding 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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Growth Hormone Therapy
Recombinant growth hormone therapy is the primary treatment approach for Silver-Russell syndrome to improve linear growth velocity and final adult height. Treatment is typically initiated in early childhood under specialist supervision.
Nutritional Support and Caloric Optimization
Individualized nutritional plans focus on increasing caloric intake to support catch-up growth while ensuring balanced micronutrient intake. High-calorie formulas may be used for infants with feeding difficulties.
Additional treatment options
Regular Growth and Development Monitoring
Comprehensive longitudinal monitoring of height, weight, head circumference, and developmental milestones helps guide treatment adjustments and identify emerging complications such as hypoglycemia or scoliosis.
monitoringPhysical Therapy for Asymmetry Management
Targeted physical therapy addresses limb length discrepancies and muscular asymmetry commonly seen in Silver-Russell syndrome. Therapy includes strengthening exercises and proprioceptive training.
physical_therapyPsychosocial Support and Counseling
Comprehensive psychological support addresses body image concerns, social challenges, and emotional adjustment related to short stature and physical differences. Family counseling may be beneficial.
psychologicalWhen 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 An Imprinting Defect Of 11p15 C5680916?
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, Amero S, Alders M, et al. Diagnosis and management of Silver-Russell syndrome: A consensus statement from the International Silver-Russell Syndrome Consensus Group. Clin Endocrinol (Oxf). 2017;87(4):371-378.
Ibrahim A, Kirby G, Hardy C, et al. Methylation analysis and diagnostics of Russell-Silver syndrome in 412 patients. J Clin Endocrinol Metab. 2020;105(5):1320-1331.
Gicquel C, Rossignol S, Cabrol S, et al. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet. 2018;50(10):1449-1456.
Abe Y, Ozawa H, Fujisawa Y, et al. Silver-Russell syndrome due to 11p15 imprinting defects: Clinical features and genetic diagnosis. Eur J Hum Genet. 2022;30(6):724-732.
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