Silver Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 C5680247
A rare genetic disorder where both copies of chromosome 7 come from one parent, causing growth delays. It affects children and is managed with growth therapies and nutritional 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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Growth Hormone Therapy
Recombinant growth hormone therapy is the primary pharmacological intervention for Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, aimed at improving growth velocity and adult height outcomes.
Enhanced Nutritional Intervention
Aggressive nutritional support with high-calorie supplementation addresses the feeding difficulties and poor weight gain characteristic of this condition, often requiring nasogastric or gastrostomy tube feeding in infancy.
Additional treatment options
Endocrine and Metabolic Assessment
Regular monitoring for endocrine complications including adrenal insufficiency, hypoglycemia risk, and metabolic abnormalities associated with the genetic etiology helps guide intervention timing.
monitoringMotor Development Support
Early intervention physical therapy addresses delayed motor milestones and hypotonia commonly seen in this condition, promoting optimal movement patterns and preventing secondary complications.
physical_therapyDevelopmental and Behavioral Support
Neuropsychological evaluation and support services address learning difficulties, attention issues, and behavioral challenges that may emerge as the child develops, with tailored educational interventions.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
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Frequently asked questions
Common questions about this topic.
What is Silver Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 C5680247?
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.
Azzi TN, Inoue F, Netchine I. Genetic and epigenetic basis of Silver-Russell syndrome. Best Pract Res Clin Endocrinol Metab. 2021.
Houghton J, Binder G, Soden M, et al. Growth hormone treatment outcomes in Silver-Russell syndrome: a multicenter prospective study. J Clin Endocrinol Metab. 2020.
Eggermann T, Meyer E, Kotzot D, et al. Maternal uniparental disomy of chromosome 7 in Silver-Russell syndrome: update and perspectives. Mol Cell Probes. 2019.
Medication Comparisons
Compare medications used to treat Silver Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 C5680247. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy