Silver–Russell syndrome

Silver–Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face, asymmetry and feeding difficulties. As many of these features are non-specific, clinical diagnosis of SRS remains difficult. Hypomethylation of the imprin...

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Bibliographic Details
Published in:Archives of disease in childhood 2011-12, Vol.96 (12), p.1156-1161
Main Author: Wakeling, Emma L
Format: Article
Language:English
Subjects:
Biological and medical sciences
Body Weight
Clinical Diagnosis
Developmental Delays
Developmental Disabilities - diagnosis
Facies
Feeding Behavior
General aspects
Genomic Imprinting
Genotype
Growth Disorders - diagnosis
Humans
Infant, Newborn
Medical sciences
Miscellaneous
Patients
Phenotype
Prevention and actions
Prognosis
Public health. Hygiene
Public health. Hygiene-occupational medicine
Silver-Russell Syndrome - diagnosis
Silver-Russell Syndrome - genetics
Silver-Russell Syndrome - therapy
Speech Therapy
Uniparental Disomy
Young Children
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Summary:Silver–Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face, asymmetry and feeding difficulties. As many of these features are non-specific, clinical diagnosis of SRS remains difficult. Hypomethylation of the imprinting control region (ICR) 1 on chromosome 11p15 and maternal uniparental disomy (mUPD) for chromosome 7 are found in up to 60% and around 5–10% of patients with SRS, respectively. Patients with ICR1 hypomethylation are more likely to have classical features of SRS, including asymmetry; patients with mUPD7 are more likely to have learning difficulties, particularly speech problems, although these are usually mild. As features vary widely in severity, clinicians should have a low threshold for genetic investigation of patients with features suggestive of SRS.
ISSN:0003-9888
1468-2044
DOI:10.1136/adc.2010.190165