Simpson-Golabi-Behmel syndrome

Last revised by Edgar Lorente on 29 Nov 2020

Simpson-Golabi-Behmel syndrome is a rare X-linked recessive disorder of pre- and postnatal overgrowth syndrome represented by mild to severe intellectual disability 3,7, anomalies of the musculoskeletal system, cardiovascular system, central nervous system, renal and gastrointestinal tract were observed 11.

Simpson-Golabi-Behmel syndrome is characterized by:

  • polyhydramnios 
  • neonatal recurrent hypoglycemia 6 
  • facial deformities, including cleft lip and palate 9, macrostomia, macroglossia and dental malocclusion 12 
  • hepatosplenomegaly
  • multicystic dysplasia of kidneys
  • malrotation of bowel loops
  • Meckel diverticulum
  • congenital heart defects
  • supernumerary nipples
  • umbilical and diaphragmatic hernias 1,3,5.
  • skeletal manifestations, such as congenital C2–C3 vertebral fusion and cervical ribs 4.

Like other overgrowth disorders, there is an increased risk of Wilms tumor 18, adrenal neuroblastoma 17, gonadoblastomas, hepatoblastomas 19 and acute lymphoblastic leukemia 2,3,8.

Simpson-Golabi-Behmel syndrome is caused by loss of function mutation in the (glypican-3) CPC3 gene 8, and in some cases CPC4, that eventually leads to overgrowth disorder and multiple malignancies 2,5,7.

Differential diagnosis includes 1,5,7:

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