Simpson-Golabi-Behmel syndrome
Encyclopedia
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), is a rare inherited congenital disorder
with widely variable expression, causing craniofacial and other abnormalities.
It is inherited in an X-linked recessive
fashion, meaning that generally only males are affected, but females are carriers.
Types include:
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 diverticulum
, intestinal malrotation
, and congenital diaphragmatic hernia
.
People with this syndrome may have an increased risk of tumors, such as neuroblastoma
or Wilms tumor
.
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.
Congenital disorder
A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...
with widely variable expression, causing craniofacial and other abnormalities.
It is inherited in an X-linked recessive
X-linked recessive
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males and in females who are homozygous for the gene mutation X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on...
fashion, meaning that generally only males are affected, but females are carriers.
Types include:
| Type | OMIM | Gene | Locus |
|---|---|---|---|
| SGBS1 | GPC3 | Xq26 | |
| SGBS2 | CXORF5 | Xp22 |
Characteristics
Affected individuals typically have pre- or postnatalPostnatal
Postnatal is the period beginning immediately after the birth of a child and extending for about six weeks. Another term would be postpartum period, as it refers to the mother...
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
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
does occur. They often have abnormalities of the extremities, such as broad, short hands and feet, occasionally with polydactyly
Polydactyly
Polydactyly or polydactylism , also known as hyperdactyly, is a congenital physical anomaly in humans, dogs, and cats having supernumerary fingers or toes....
. Other abnormalities may include pectus excavatum
Pectus excavatum
Pectus excavatum is the most common congenital deformity of the anterior wall of the chest, in which several ribs and the sternum grow abnormally. This produces a caved-in or sunken appearance of the chest...
, ventricular septal defect
Ventricular septal defect
A ventricular septal defect is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart.The ventricular septum consists of an inferior muscular and superior membranous portion and is extensively innervated with conducting cardiomyocytes.The membranous...
(or other congenital heart defect
Congenital heart defect
A congenital heart defect is a defect in the structure of the heart and great vessels which is present at birth. Many types of heart defects exist, most of which either obstruct blood flow in the heart or vessels near it, or cause blood to flow through the heart in an abnormal pattern. Other...
s), Meckel diverticulum
Meckel's diverticulum
A Meckel's diverticulum, a true congenital diverticulum, is a small bulge in the small intestine present at birth. It is a vestigial remnant of the omphalomesenteric duct , and is the most frequent malformation of the gastrointestinal tract...
, intestinal malrotation
Intestinal malrotation
Intestinal malrotation is a congenital anomaly of rotation of the midgut...
, and congenital diaphragmatic hernia
Congenital diaphragmatic hernia
Congenital diaphragmatic hernia is a congenital malformation of the diaphragm. The most common type of CDH is a Bochdalek hernia; other types include Morgagni's hernia, diaphragm eventration and central tendon defects of the diaphragm...
.
People with this syndrome may have an increased risk of tumors, such as neuroblastoma
Neuroblastoma
Neuroblastoma is the most common extracranial solid cancer in childhood and the most common cancer in infancy, with an annual incidence of about 650 cases per year in the US , and 100 cases per year in the UK . Close to 50 percent of neuroblastoma cases occur in children younger than two years old...
or Wilms tumor
Wilms' tumor
Wilms' tumor or nephroblastoma is cancer of the kidneys that typically occurs in children, rarely in adults.Its common name is an eponym, referring to Dr. Max Wilms, the German surgeon who first described this kind of tumor....
.
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.