| Simpson–Golabi–Behmel syndrome | |
|---|---|
| Classification and external resources | |
X-linked recessive inheritance. |
|
| ICD-10 | Q89.9 |
| ICD-9 | 759.89 |
| OMIM | 312870 |
| DiseasesDB | 32640 |
Simpson–Golabi–Behmel syndrome (SGBS), also called Bulldog syndrome, Sara Agers syndrome, Golabi–Rosen syndrome, Simpson dysmorphia syndrome (SDYS) or X-linked dysplasia gigantism syndrome (DGSX),[1] is a rare inherited congenital disorder with widely variable expression, causing craniofacial and other abnormalities.
It is inherited in an X-linked recessive fashion,[2] meaning that generally only males are affected, but females are carriers.
Types include:
| Type | OMIM | Gene | Locus |
|---|---|---|---|
| SGBS1 | 312870 | GPC3 | Xq26 |
| SGBS2 | 300209 | CXORF5 | Xp22 |
Affected individuals typically have pre- or postnatal overgrowth leading to coarse ("bulldog-like") faces with protruding jaw and tongue, widened nasal bridge, and upturned nasal tip. They often are quite tall. Intelligence is usually normal, although mental retardation does occur. They often have abnormalities of the extremities, such as broad, short hands and feet, occasionally with polydactyly. Other abnormalities may include pectus excavatum, ventricular septal defect (or other congenital heart defects), Meckel diverticulum, intestinal malrotation, and congenital diaphragmatic hernia.
People with this syndrome may have an increased risk of tumors, such as neuroblastoma or Wilms tumor[3].
SGBS is somewhat similar to another overgrowth syndrome called Beckwith–Wiedemann syndrome.
SGBS Cells is a unique tool to study the function of Human adipocyte biology. These cells are similar to human primary preadipocytes, and will become a popular model instead of Mouse 3T3-L1 cells to study the secretion and adipokine profile in the future.