Simpson-Golabi-Behmel syndrome (SGBS)

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

Dysmorphic features

Neurological features

Skeletal features

Embryonal cancers

Genitourinary features

Cardiac features

Systemic features

Magnetic resonance imaging (MRI) features

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.

Related checklists

• Bannayan-Zonana syndrome (BZS)
• Cole Hughes syndrome
• Lujan Fryns syndrome (LFS)
• Macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome
• Macrocephaly-capillary malformation (M-CM) syndrome
• Opitz-Kaveggia syndrome
• Megalencephaly polymicrgyria polydactyly hydrocephalus (MPPH) syndrome
• Proteus syndrome
• Sotos syndrome (cerebral gigantism)
• CLOVES syndrome