Home > D. Systemic pathology > Genetic and developmental anomalies > Simpson-Golabi-Behmel syndrome

Simpson-Golabi-Behmel syndrome

MIM.312870 Xq26

Tuesday 10 February 2004

Digital cases

- Case 124 : Liver in Simpson-Golabi-Behmel syndrome

Types

- type 1 SGBS1 / X-linked recessive SGBS1 (MIM.312870 / GPC3)
- type 2 SGBS2 / X-linked recessive SGBS2 (MIM.300209 / CXORF5)

Synopsis

- systemic anomalies

  • macrosomy, gigantism, overgrowth syndrome
  • hydrops fetalis (#8599356#)

- craniofacial anomalies

  • macrocephaly
  • coarse facies
  • ears anomalies: accessory tragus (preauricular pits, preauricular tags)
  • eyes anomalies: downslanting palpebral fissures, hypertelorism, epicanthal folds
  • nose anomalies: broad flat nasal bridge, short nose, upturned nose
  • mouth anomalies: macrostomia, macroglossia, midline groove of lower lip, broad secondary alveolar ridge, submucous cleft lip, cleft palate
  • dental malocclusion

- cardiovascular anomalies

  • cardiac conduction defects
  • ventricular septal defect
  • pulmonic stenosis
  • transposition of great vessels
  • patent ductus arteriosus
  • cardiomyopathy

- thoracic anomalies

  • lung segmentation defects
  • cervical ribs
  • pectus excavatum
  • 13 pairs of thoracic ribs
  • supernumerary nipples
  • diaphragmatic hernia

- abdominal anomalies

  • umbilical hernia
  • diastasis recti
  • visceromegaly -* hyperplastic islets of Langerhans
  • polysplenia
  • splenomegaly
  • intestinal malrotation
  • Meckel diverticulum
  • inguinal hernia

- hepatic anomalies

  • hepatomegaly
  • hepatic vascular malformation (#17497720#)
  • hepatoblastoma (#16166055#)
  • hepatocellular carcinoma (#9507397#)

- genital anomalies (#19842194#)

  • cryptorchidism
  • chordee of the penis (#19842194#)
  • hypospadius (#19842194#)
  • penoscrotal transposition (#19842194#)

- urogenital anomalies

  • nephromegaly
  • renal cysts
  • duplication of renal pelvis
  • hypospadias

- skeletal anomalies

  • advanced bone age
  • vertebral segmentation defects
  • fusion of C2-C3 posterior elements
  • six lumbar vertebrae
  • sacral defects
  • coccygeal defects
  • scoliosis

- limb anomalies

  • flared iliac wing
  • narrow sacroiliac notches in infancy
  • short broad hands
  • postaxial polydactyly
  • syndactyly 2nd-3rd fingers
  • broad thumbs
  • distal phalangeal hypoplasia
  • two carpal ossification centers present at birth
  • short broad feet
  • syndactyly 2nd-3rd toes
  • broad toes
  • clubfoot
  • coccygeal skin tags
  • fingernail hypoplasia

- cerebral anomalies

  • agenesis of corpus callosum
  • cerebellar vermis hypoplasia
  • hydrocephalus
  • hypotonia

- predisposition to tumors

  • embryonal tumors
  • Wilms tumor
  • diffuse neonatal hemangiomatosis (#11967762#)
  • hepatic vascular malformation (#17497720#)
  • hepatoblastoma (#16166055#)
  • hepatocellular carcinoma (#9507397#)

Etiology

- Locus SGBS1 at Xq26 (MIM.312870): mutation in the gene for glypican-3 (GPC3) (MIM.300037)
- Locus SGBS2 at Xp22 (MIM.300209)

See also

- macrosomy
- gigantism
- overgrowth syndromes