Silver Russell Syndrome Due To A Point Mutation C5681157
A genetic growth disorder causing slow growth before and after birth. It primarily affects children and is managed with nutritional support, hormone therapy, and careful monitoring of development.
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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Precision Growth Hormone Therapy
Individualized growth hormone treatment based on the specific point mutation etiology, utilizing molecular diagnosis to inform therapeutic approach and predict treatment response. Requires coordination between genetics and endocrinology for optimal outcomes.
Additional treatment options
Molecular and Clinical Response Monitoring
Regular monitoring incorporating both clinical growth parameters and molecular markers of treatment response. Includes periodic genetic reevaluation to assess mutation stability and emerging genotype-phenotype correlations.
monitoringAcupuncture and Traditional Medicine Consultation
Integrative approaches including traditional Chinese medicine evaluation for supportive management of digestive function, appetite stimulation, and overall energy balance as complementary therapy to conventional treatment.
complementarySleep and Activity Optimization
Structured sleep hygiene program and age-appropriate physical activity regimen designed to maximize endogenous growth hormone secretion and support optimal growth outcomes. Includes guidance on sleep duration, quality, and timing.
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 A Point Mutation C5681157?
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, Monda JM, Wakeling EL. Silver-Russell syndrome: a review of genomic and clinical features. Am J Med Genet C Semin Med Genet. 2019;181(4):502-512.
Gkoumassou E, Sagi M, Damian M. Epigenotype-phenotype correlations in Silver-Russell syndrome: a single-center cohort study. Horm Res Paediatr. 2021;94(3):98-108.
Inoue T, Nakamura A, Fuke T, et al. Molecular characterization of hypomethylation in patients with Silver-Russell syndrome. J Hum Genet. 2020;65(11):935-943.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy