Simpson-Golabi-Behmel syndrome (SGBS)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Simpson-Golabi-Behmel syndrome (SGBS). This is caused by mutations in the glypican 3 and 4 (GPC3 and GPC4) genes. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the glypican 3 and 4 (GPC3 and GPC4) genes
  • The genes are on chromosome Xq26
  • The genes regulate cell growth and division
  • The transmission is X-linked

Types

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Dysmorphic features

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Neurological features

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Skeletal features

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Embryonal cancers

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Genitourinary features

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Cardiac features

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Systemic features

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Magnetic resonance imaging (MRI) features

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References

  1. Tenorio J, Arias P, Martínez-Glez V, et al. Simpson-Golabi-Behmel syndrome types I and II. Orphanet J Rare Dis 2014; 9:138.
  2. Pavone P, Praticò AD, Rizzo R, et al. A clinical review on megalencephaly: a large brain as a possible sign of cerebral impairment. Medicine (Baltimore) 2017; 96:e6814.

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