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
- 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
- hepatomegaly
- hyperplastic islets of Langerhans
- polysplenia
- splenomegaly
- intestinal malrotation
- Meckel diverticulum
- cryptorchidism
- inguinal hernia
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)
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