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Silver-Russell syndrome
Genetics:
- generally sporadic, but may run in families
- maternal uniparental disomy of chromosome 7 in 5-10%
- epigenetic mutations affecting the imprinting centres on chromosome 11p15 in 64%
a) methylation defects
b) maternally inherited duplications involving all or part of the imprinted region of 11p15
c) IGF2
Clinical manifestations:
- intrauterine & postnatal growth retardation
- short stature but normal head size
- asymmetry
- decreased subcutaneous fat
- markedly triangular facial shape
Management:
- growth hormone for short stature not especially useful
- referral for genetic testing if diagnosis suspected
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 180860
References
- Abu-Amero S et al
The genetic aetiology of Silver-Russell syndrome.
J Med Genet 2008 Apr; 45:193
PMID: 18156438
- Bullman H et al
Mosaic maternal uniparental disomy of chromosome 11 in a
patient with Silver-Russell syndrome.
J Med Genet 2008 Jun; 45:396.
PMID: 18474587
- ARUP Consult: Beckwith-Wiedemann and Russell-Silver Syndromes
https://arupconsult.com/ati/beckwith-wiedemann-and-russell-silver-syndromes