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Silver-Russell syndrome

MIM.180860 11p15.5 and 7p11.2

Wednesday 8 March 2006

Silver-Russell syndrome is a congenital disorder characterized by severe intrauterine and postnatal growth retardation, dysmorphic facial features and body asymmetry. Marked heterogeneity. Majority cases are sporadic.

Clinical synopsis

- short stature (average adult male height, 149.5 cm; average female adult height, 138 cm)
- Small for gestational age infant
- lateral asymmetry
- partial or total asymmetry
- intrauterine growth retardation
- pseudohydrocephalic appearance
- normal head circumference
- small, triangular facies
-  micrognathia
- frontal bossing
- blue sclera in infancy
- Down turned corners of mouth
- cardiac malformations
- posterior urethral valves
- hypospadias
- skeletal maturation retardation
- craniofacial disproportion
- delayed fontanel closure
- asymmetry of arms and/or legs
- fifth finger clinodactyly
- fifth digit middle or distal phalangeal hypoplasia
- syndactyly of 2nd-3rd toes
- cafe-au-lait spots
- central nervous system developmental delay
- fasting hypoglycemia
- growth hormone deficiency in some individuals

Tumor predisposition

- craniopharyngioma
- testicular seminoma
- Wilms tumor
- hepatocellular carcinoma (2853572)


- 11p15.5-associated Silver-Russell syndrome
- 7p11.2-associated Silver-Russell syndrome


- maternal uniparental disomy with respect to chromosome 7 occurring in approximately 10% of affected individuals.

- epimutation (demethylation) in the telomeric imprinting center region ICR1 of the 11p15 region (16086014)

  • This epigenetic defect is associated with, and probably responsible for, relaxation of imprinting and biallelic expression of H19 and downregulation of IGF2. (16086014)


- Eggermann T, Eggermann K, Schönherr N. Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome. Trends Genet. 2008 Apr;24(4):195-204. PMID: 18329128

- Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, Le Merrer M, Burglen L, Bertrand AM, Netchine I, Le Bouc Y. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet. 2005 Sep;37(9):1003-7. Epub 2005 Aug 7. PMID: 16086014

- Rossignol S. Silver-Russell syndrome and its genetic origins. J Endocrinol Invest. 2006;29(1 Suppl):9-10. PMID: 16615300