Simpson–Golabi–Behmel syndrome: Difference between revisions
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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 defect]]s), [[Meckel's diverticulum|Meckel diverticulum]], [[intestinal malrotation]], and [[congenital diaphragmatic hernia]]. |
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 defect]]s), [[Meckel's diverticulum|Meckel diverticulum]], [[intestinal malrotation]], and [[congenital diaphragmatic hernia]]. |
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People with this syndrome may have an increased risk of tumors, such as [[neuroblastoma]] or [[Wilms' tumor|Wilms tumor]]<ref>Neri, G., Gurrieri, F., Zanni, G., Lin, A. |
People with this syndrome may have an increased risk of tumors, such as [[neuroblastoma]] or [[Wilms' tumor|Wilms tumor]]<ref>Neri, G., Gurrieri, F., Zanni, G., Lin, A. (1998). "Clinical and molecular aspects of Simpson-Golabi-Behmel sydrome."''American Journal of Medical Genetics''.'''79'''(4): 279-283. [http://onlinelibrary.wiley.com/doi/10.1002/%28SICI%291096-8628%2819981002%2979:4%3C279::AID-AJMG9%3E3.0.CO;2-H/abstract]</ref>. |
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SGBS is somewhat similar to another overgrowth syndrome called [[Beckwith-Wiedemann syndrome]]. |
SGBS is somewhat similar to another overgrowth syndrome called [[Beckwith-Wiedemann syndrome]]. |
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Revision as of 07:10, 23 April 2011
 | This article needs additional citations for verification. (August 2010) |
| Simpson–Golabi–Behmel syndrome | |
|---|---|
| Specialty | Medical genetics  |
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 | Template:OMIM2 | GPC3 | Xq26 |
| SGBS2 | Template:OMIM2 | CXORF5 | Xp22 |
Characteristics
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.
References
- ^ Online Mendelian Inheritance in Man (OMIM): 312870
- ^ Garganta CL, Bodurtha JN (1992). "Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature". Am J Med Genet. 44 (2): 129–135. doi:10.1002/ajmg.1320440202. PMID 1456279.
- ^ Neri, G., Gurrieri, F., Zanni, G., Lin, A. (1998). "Clinical and molecular aspects of Simpson-Golabi-Behmel sydrome."American Journal of Medical Genetics.79(4): 279-283. [1]
External links
- Simpson-Golabi-Behmel syndrome at NIH's Office of Rare Diseases
- GeneReview/NCBI/NIH/UW entry on Simpson-Golabi-Behmel Syndrome
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