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Simpson-Golabi-Behmel syndrome

MIM.312870 Xq26

SGBS, Bulldog syndrome, X-linked dysplasia gigantism syndrome, Golabi-Rosen syndrome, Simpson dysmorphia syndrome

X-linked recessive disease.

Synopsis

- systemic anomalies

- 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

- thoracic anomalies

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

- abdominal anomalies

- urogenital anomalies

- 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

- predisposition to tumors

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

Keywords