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Russell-Silver Syndrome
Synonyms: Russell-Silver dwarfism, Silver-Russell syndrome, SRS, Silver syndrome
This is an inherited syndrome featuring:
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Incidence
This is very rare.
- Reported cases since the discovery of the syndrome number in the hundreds but it may be under-diagnosed.
- Estimates of incidence vary from 1 in 3,000 births to 1 in 100,000.3
Risk factors
Advanced maternal age - >35 years4
The condition occurs sporadically and in most cases no genetic cause can be clearly identified.
In general the features of the syndrome are most pronounced in young children and become less obvious as the patient ages.
The face is characteristically small and triangular, but the head circumference is usually normal for age. This, combined with short stature, gives the appearance of having a large head.
Some people with the syndrome have normal intelligence, others have a learning disability.
- Growth:
- Birthweight < -2 SD from mean
- Poor post natal growth < -2 SD from mean at diagnosis
- Normal occipitofrontal circumference despite growth retardation
- Asymmetrical patterns of growth
- Facies:
- Normal head circumference, but characteristic small, triangular face
- Blue sclerae
- High forehead tapering to micrognathic jaw
- Prominent nasal bridge and down-turned corners of mouth
- Gastrointestinal/metabolic:
- Feeding difficulties during infancy including gastro-oesophageal reflux, oesophagitis, food aversion and failure to thrive10
- Tendency to fasting hypoglycaemia during infancy/early childhood11
- Developmental abnormalities:
- Poor head control in infancy due to relatively large head compared to neck/trunk Motor impairment due to poor muscle mass/function
- About half have learning difficulties, particularly problems with arithmetic and language
- Skeletal abnormalities:
- Late closure anterior fontanelle
- Limb asymmetry and hemihypertrophy
- Clinodactyly (incurving) of little finger
- Camptodactyly (fixed flexion) of fingers
- Syndactyly (fusion) of toes
- Sprengel neck deformity - unilateral shortening and webbing to trunk
- X-ray abnormalities include:
- Delayed bone age
- 'Ivory' epiphyses of distal phalanges
- Small middle phalanx of little finger - present in 4 out of 5 cases
- Pseudoepiphyses at the base of 2nd metacarpal
- Miscellaneous features:
- Increased sweating affecting head and upper trunk
- Urogenital anomalies - hyopspadias, posterior urethral valves
- Cardiac abnormalities
- Tendency to tumours such as Wilms' tumour, hepatocellular carcinoma, testicular seminoma and craniopharyngioma
- Causes of intrauterine growth retardation and failure to thrive
- Fetal alcohol syndrome, Fanconi syndrome - present similarly
- Karyotyping of child and both parents to look for known underlying genetic abnormalities.
- Radiographs of the hand may detect typical skeletal abnormalities.
- Growth can be improved by optimising nutrition:
- Enteral feeding may be needed
- Growth hormone has been used in patients with a deficiency, although many have normal GH levels
- Early use of physiotherapy
- Educational support
Good on the whole with reasonably full life expectancy.
However, there have been no long-term follow up studies of sufficient numbers of sufferers to definitively define life expectancy, morbidity and mortality.
Document references
- SILVER HK, KIYASU W, GEORGE J, et al; Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics. 1953 Oct;12(4):368-76.
- RUSSELL A; A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc R Soc Med. 1954 Dec;47(12):1040-4.
- Prakash-Cheng A, McGovern M; Silver-Russell Syndrome. eMedicine; July 2006
- Ginsburg C, Fokstuen S, Schinzel A; The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age. Am J Med Genet. 2000 Dec 18;95(5):454-60. [abstract]
- OMIM. Silver Russell Syndrome
- Smith AC, Choufani S, Ferreira JC, et al; Growth regulation, imprinted genes, and chromosome 11p15.5. Pediatr Res. 2007 May;61(5 Pt 2):43R-47R. [abstract]
- Font-Montgomery E, Stone KM, Weaver DD, et al; Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7. Birth Defects Res A Clin Mol Teratol. 2005 Aug;73(8):577-82. [abstract]
- Kalousek DK, Vekemans M; Confined placental mosaicism and genomic imprinting. Baillieres Best Pract Res Clin Obstet Gynaecol. 2000 Aug;14(4):723-30. [abstract]
- OMIM. Russell-Silver syndrome, X-linked
- Anderson J, Viskochil D, O'Gorman M, et al; Gastrointestinal complications of Russell-Silver syndrome: a pilot study. Am J Med Genet. 2002 Nov 15;113(1):15-9. [abstract]
- Azcona C, Stanhope R; Hypoglycaemia and Russell-Silver syndrome. J Pediatr Endocrinol Metab. 2005 Jul;18(7):663-70. [abstract]
Internet and further reading
- Child Growth Foundation. Russell Silver Syndrome/Intrauterine Growth Retardation (Information for Parents and image of a child with characteristic facies)
- Price SM, Stanhope R, Garrett C, et al; The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet. 1999 Nov;36(11):837-42. [abstract]
- Font-Montgomery E, Stone KM, Weaver DD, et al; Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7. Birth Defects Res A Clin Mol Teratol. 2005 Aug;73(8):577-82. [abstract]
DocID: 2743
Document Version: 20
DocRef: bgp1427
Last Updated: 18 Nov 2007
Review Date: 17 Nov 2009
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