Silver-Russell Syndrome

Alternative Names

  • SRS
  • Russell-Silver Syndrome
  • RSS
  • Silver-Russell Dwarfism
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

180860

Mode of Inheritance

Autosomal dominant

Gene Map Locus

7p11.2,11p15.5

Description

Silver-Russell syndrome (SRS) is a very rare genetic disorder characterized by intrauterine growth retardation, difficulty in feeding, failure to thrive, poor growth, short stature, and asymmetry in size of the two halves or parts of the body. Disease onset is usually in early childhood and the patients appear to have triangular face with broad forehead, small pointed chin, and thin wide mouth. Shortness and/or clinodactyly of the fifth fingers are common findings. Patients may be slow to learn motor skills. To achieve optimal nutrition, a feeding tube may be helpful. Also, growth hormone therapy can enhance the growth process. Incidence ranges from 1 in 3,000 to 1 in 100,000 worldwide and more than 500 cases have been reported with equal male-to-female ratio.

Silver-Russell Syndrome occurs mostly due to epigenetic changes at the ICR1 region on chromosome 11. A genetic defect in chromosome 7 (maternal uniparental disomy of chromosome 7) has also been identified in about 10% of the patients.

Epidemiology in the Arab World

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Other Reports

Lebanon

Fuleihan et al. (1971) presented the first occurrence of Silver- Russell Syndrome (SRS) in Lebanon in three siblings born to consanguineous parents of Kurdish origin.

Chammas et al. (1997) reported the case of a Lebanese girl of 11 months of age with Russel-Silver syndrome. She was the second child on non-related Lebanese parents.  [Chammas C, Haddad J, Souraty N, Megarbane A. Le syndrome de Russel-Silver: description d'un cas et revue de la litterature. Rev Med Libanaise 1997; 9:152-4.]

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