Silver Russell Syndrome Due To 7p11 2p13 Microduplication C5679840
A form of this condition resulting from duplications in specific regions of chromosome 7, affecting growth patterns and development. Care involves growth monitoring and supportive interventions.
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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Targeted Growth Hormone Therapy
Growth hormone therapy adapted for the specific 7p11.2p13 microduplication genetic subtype which may have distinct growth response patterns. Involves careful titration based on growth response and IGF-1 levels with attention to the chromosomal context.
Aggressive Nutritional Intervention
Comprehensive nutritional rehabilitation program including caloric supplementation, frequent feeding schedules, and appetite stimulation strategies to address severe intrauterine and postnatal growth restriction characteristic of this subtype.
Additional treatment options
Developmental and Neurological Monitoring
Structured developmental surveillance given potential neurological involvement associated with 7p11.2p13 microduplication. Includes regular neurodevelopmental assessments, monitoring for seizures, and evaluation of developmental milestones.
monitoringNeuropsychological Evaluation and Support
Comprehensive neuropsychological testing to identify learning profiles, cognitive strengths and weaknesses, and behavioral concerns associated with this genetic variant. Development of individualized education plans and therapeutic interventions.
psychologicalFamily Education and Support Program
Education of caregivers and family members regarding the specific genetic subtype, expected growth trajectory, and management strategies. Includes training on feeding techniques, growth monitoring, and recognition of developmental concerns requiring intervention.
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 Silver Russell Syndrome Due To 7p11 2p13 Microduplication C5679840?
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, Brioude F, Lokulo-Sodipe O, et al. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017;13(2):105-124.
Abu-Amero S, Monk D, Frost J, et al. The genetic aetiology of Silver-Russell syndrome. J Med Genet. 2018;55(4):226-236.
Binder G, Bechtold-Della Pozza S, Lazariotou M, et al. Clinical characteristics and genotype-phenotype correlation in patients with Silver-Russell syndrome. Horm Res Paediatr. 2019;91(3):174-182.
H瞟然er L, Netchine I, Taler M, et al. Clinical practice guidelines for Silver-Russell syndrome from the European Reference Network on Rare Endocrine Conditions. Eur J Endocrinol. 2020;182(4):373-384.
Medication Comparisons
Compare medications used to treat Silver Russell Syndrome Due To 7p11 2p13 Microduplication C5679840. 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