FG syndrome
अंतिम अद्यतन 18 Aug 2020
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FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder.
विवरण
FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder.
FG syndrome affects intelligence and behaviour. Almost everyone with the condition has intellectual disability, which ranges from mild to severe. Affected individuals tend to be friendly, inquisitive, and hyperactive, with a short attention span. Compared to people with other forms of intellectual disability, their socialization and daily living skills are strong, while verbal communication and language skills tend to be weaker.
The physical features of FG syndrome include weak muscle tone (hypotonia), broad thumbs, and wide first (big) toes. Abnormalities of the tissue connecting the left and right halves of the brain (the corpus callosum) are also common. Most affected individuals have constipation, and many have abnormalities of the anus such as an obstruction of the anal opening (imperforate anus). People with FG syndrome also tend to have a distinctive facial appearance including small, underdeveloped ears; a tall, prominent forehead; and outside corners of the eyes that point downward (down-slanting palpebral fissures).
Additional features seen in some people with FG syndrome include widely set eyes (hypertelorism), an upswept frontal hairline, and a large head compared to body size (relative macrocephaly). Other health problems have also been reported, including heart defects, seizures, undescended testes (cryptorchidism) in males, and a soft out-pouching in the lower abdomen (an inguinal hernia).
Inheritance patterns
The source lists the following possible inheritance patterns: X-linked recessive. More than one pattern can apply in different cases.
Related genes
Other names
FGS
FGS1
Keller syndrome
Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum
OKS
Opitz-Kaveggia syndrome
Related patient information and medicines
Patient information leaflet
नेफ्रोटिक सिंड्रोम
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Patient information leaflet
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Patient information leaflet
क्रोनिक थकान सिंड्रोम
Chronic fatigue syndrome (CFS), sometimes known as myalgic encephalomyelitis (ME) or myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) , is a condition where there is long-term disabling tiredness (fatigue). Most people with also have one or more ... Chronic fatigue syndrome (CFS) is defined as persistent or recurrent debilitating.
Patient information leaflet
ग्रेटर ट्रोकेंटरिक दर्द सिंड्रोम
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Patient information leaflet
गुइलेन-बैरे सिंड्रोम
Guillain-Barré syndrome affects the nerves of the limbs and body and is usually triggered by an infection. The main symptom is sudden onset weakness of the muscles that are supplied by the affected nerves. What is Guillain-Barré syndrome. Guillain-Barré syndrome (GBS) है a disease that affects nerves throughout the body and limbs. It is usually.
अधिक पठन और संदर्भ
- FG syndrome; MedlinePlus, National Library of Medicine.
- Briault S, Hill R, Shrimpton A, Zhu D, Till M, Ronce N, Margaritte-Jeannin P, Baraitser M, Middleton-Price H, Malcolm S, Thompson E, Hoo J, Wilson G, Romano C, Guichet A, Pembrey M, Fontes M, Poustka A, Moraine C. A gene for FG syndrome maps in the Xq12-q21.31 region. Am J Med Genet. 1997 Nov 28;73(1):87-90.
- Briault S, Odent S, Lucas J, Le Merrer M, Turleau C, Munnich A, Moraine C. Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome. Am J Med Genet. 1999 Sep 10;86(2):112-4. doi: 10.1002/(sici)1096-8628(19990910)86:23.0.co;2-3.
- Clark RD, Graham JM Jr, Friez MJ, Hoo JJ, Jones KL, McKeown C, Moeschler JB, Raymond FL, Rogers RC, Schwartz CE, Battaglia A, Lyons MJ, Stevenson RE. FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. Genet Med. 2009 Nov;11(11):769-75. doi: 10.1097/GIM.0b013e3181bd3d90.
- Dessay S, Moizard MP, Gilardi JL, Opitz JM, Middleton-Price H, Pembrey M, Moraine C, Briault S. FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]. Am J Med Genet. 2002 Sep 15;112(1):6-11. doi: 10.1002/ajmg.10546.
- Graham JM Jr, Tackels D, Dibbern K, Superneau D, Rogers C, Corning K, Schwartz CE. FG syndrome: report of three new families with linkage to Xq12-q22.1. Am J Med Genet. 1998 Nov 2;80(2):145-56.
- Graham JM Jr, Visootsak J, Dykens E, Huddleston L, Clark RD, Jones KL, Moeschler JB, Opitz JM, Morford J, Simensen R, Rogers RC, Schwartz CE, Friez MJ, Stevenson RE. Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. Am J Med Genet A. 2008 Dec 1;146A(23):3011-7. doi: 10.1002/ajmg.a.32553.
- Jehee FS, Rosenberg C, Krepischi-Santos AC, Kok F, Knijnenburg J, Froyen G, Vianna-Morgante AM, Opitz JM, Passos-Bueno MR. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. Am J Med Genet A. 2005 Dec 15;139(3):221-6. doi: 10.1002/ajmg.a.30991.
- Lyons MJ, Graham JM Jr, Neri G, Hunter AG, Clark RD, Rogers RC, Moscarda M, Boccuto L, Simensen R, Dodd J, Robertson S, DuPont BR, Friez MJ, Schwartz CE, Stevenson RE. Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. J Med Genet. 2009 Jan;46(1):9-13. doi: 10.1136/jmg.2008.060509. Epub 2008 Sep 19.
- Lyons MJ. MED12-Related Disorders. 2008 Jun 23 [updated 2021 Aug 12]. 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/NBK1676/
- Ozonoff S, Williams BJ, Rauch AM, Opitz JO. Behavior phenotype of FG syndrome: cognition, personality, and behavior in eleven affected boys. Am J Med Genet. 2000 Summer;97(2):112-8. doi: 10.1002/1096-8628(200022)97:23.0.co;2-d.
- Piluso G, Carella M, D'Avanzo M, Santinelli R, Carrano EM, D'Avanzo A, D'Adamo AP, Gasparini P, Nigro V. Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. Hum Genet. 2003 Feb;112(2):124-30. doi: 10.1007/s00439-002-0863-7. Epub 2002 Nov 13.
- Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007 Apr;39(4):451-3. doi: 10.1038/ng1992. Epub 2007 Mar 4.
- Rump P, Niessen RC, Verbruggen KT, Brouwer OF, de Raad M, Hordijk R. A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). Clin Genet. 2011 Feb;79(2):183-8. doi: 10.1111/j.1399-0004.2010.01449.x.
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