Simpson-Golabi-Behmel syndrome
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Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The other signs and symptoms of Simpson-Golabi-Behmel syndrome vary widely. People with mild cases often live into adulthood.
Descrizione
Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The other signs and symptoms of Simpson-Golabi-Behmel syndrome vary widely. People with mild cases often live into adulthood.
People with Simpson-Golabi-Behmel syndrome have distinctive facial features including widely spaced eyes (ocular hypertelorism), an unusually large mouth (macrostomia), a large tongue (macroglossia) that may have a deep groove or furrow down the middle, a broad nose with an upturned tip, and abnormalities affecting the roof of the mouth (the palate). The facial features are often described as "coarse" in older children and adults with this condition.
Other features of Simpson-Golabi-Behmel syndrome involve the chest and abdomen. Affected infants may be born with one or more extra nipples, an abnormal opening in the muscle covering the abdomen (diastasis recti), a soft out-pouching around the belly-button (an umbilical hernia), or a hole in the diaphragm (a diaphragmatic hernia) that allows the stomach and intestines to move into the chest and crowd the developing heart and lungs.
Simpson-Golabi-Behmel syndrome can also cause heart defects, malformed or abnormally large kidneys, an enlarged liver and spleen (hepatosplenomegaly), and skeletal abnormalities. Additionally, the syndrome can affect the development of the gastrointestinal system, urinary system, and genitalia. Some people with this condition have mild to severe intellectual disability, while others have normal intelligence.
About 10 percent of people with Simpson-Golabi-Behmel syndrome develop cancerous or noncancerous tumours in early childhood. The most common tumours are a rare form of kidney cancer called Wilms tumour and a cancerous tumour called a neuroblastoma that arises from developing nerve cells.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: X-linked. More than one pattern can apply in different cases.
Related genes
Altri nomi
DGSX
Mental retardation-overgrowth syndrome
SDYS
SGBS
SGBS1
Simpson dysplasia syndrome
Simpson syndrome
Simpson-Golabi-Behmel syndrome type 1
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Ulteriori letture e riferimenti
- Simpson-Golabi-Behmel syndrome; MedlinePlus, National Library of Medicine.
- Capurro MI, Xu P, Shi W, Li F, Jia A, Filmus J. Glypican-3 inhibits Hedgehog signaling during development by competing with patched for Hedgehog binding. Dev Cell. 2008 May;14(5):700-11. doi: 10.1016/j.devcel.2008.03.006.
- Cottereau E, Mortemousque I, Moizard MP, Burglen L, Lacombe D, Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, Robertson R, Viana Ramos F, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, Van Maldergem L, Baujat G, Maystadt I, Heron D, Verloes A, Philip N, Cormier-Daire V, Froute MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, Van Den Ende J, Lackmy-Port Lis M, Goldenberg A, Bonneau D, Rossignol S, Toutain A. Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet. 2013 May;163C(2):92-105. doi: 10.1002/ajmg.c.31360. Epub 2013 Apr 18.
- Fauth C, Steindl K, Toutain A, Farrell S, Witsch-Baumgartner M, Karall D, Joset P, Bohm S, Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A. A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. Am J Med Genet A. 2016 Feb;170A(2):392-402. doi: 10.1002/ajmg.a.37452. Epub 2015 Nov 6.
- Kehrer C, Hoischen A, Menkhaus R, Schwab E, Muller A, Kim S, Kreiss M, Weitensteiner V, Hilger A, Berg C, Geipel A, Reutter H, Gembruch U. Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. Prenat Diagn. 2016 Oct;36(10):961-965. doi: 10.1002/pd.4920. Epub 2016 Sep 27.
- Nisbet AF, Hathaway ER, Kalish JM. Simpson-Golabi-Behmel Syndrome Type 1. 2006 Dec 19 [updated 2024 Nov 14]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1219/
- Sakazume S, Okamoto N, Yamamoto T, Kurosawa K, Numabe H, Ohashi Y, Kako Y, Nagai T, Ohashi H. GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome. Am J Med Genet A. 2007 Aug 1;143A(15):1703-7. doi: 10.1002/ajmg.a.31822.
- Tenorio J, Arias P, Martinez-Glez V, Santos F, Garcia-Minaur S, Nevado J, Lapunzina P. Simpson-Golabi-Behmel syndrome types I and II. Orphanet J Rare Dis. 2014 Sep 20;9:138. doi: 10.1186/s13023-014-0138-0.
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