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FG syndrome(FGS; OKS)

MedGen UID:
113106
Concept ID:
C0220769
Disease or Syndrome
Synonyms: Keller syndrome; Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of the Corpus Callosum; Opitz-Kaveggia syndrome
SNOMED CT: FG syndrome (49984004)
 
MED12, CASK, FLNA, FGD1
 
Monarch Initiative: MONDO:0002010
OMIM®: 300188; 305450
OMIM® Phenotypic series: PS305450

Definition

Opitz-Kaveggia syndrome (OKS) is an X-linked recessive mental retardation syndrome characterized by dysmorphic features, including relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, and broad thumbs and halluces. Most have hypotonia, constipation, and partial agenesis of the corpus callosum. Some patients have sensorineural hearing loss and joint laxity evolving into joint contractures. Affected individuals tend to be hyperactive and talkative (summary by Graham et al., 1999). In their original family, Opitz and Kaveggia (1974) named the disorder 'FG syndrome' according to the Opitz system of using initials of patients' surnames. Genetic Heterogeneity of FG Syndrome Other forms of 'FG syndrome' were characterized due to the similar clinical features observed by Opitz and Kaveggia (1974). FGS2 (300321) is caused by mutation in the FLNA gene (300017) on chromosome Xq28 and FGS4 (300422) is caused by mutation in the CASK gene (300172) on chromosome Xp11. FGS3 (300406) has been mapped to Xp22.3, and FGS5 (300581) to Xq22.3. Risheg et al. (2007) suggested that the designation Opitz-Kaveggia syndrome be reserved for those cases with mutation in the MED12 gene. In part this is justified by the fact that a MED12 mutation was found in the family originally reported by Opitz and Kaveggia (1974). [from OMIM]

Additional description

From MedlinePlus Genetics
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).

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 behavior. 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).  https://medlineplus.gov/genetics/condition/fg-syndrome

Recent clinical studies

Etiology

Shah A, Bapna M, Al-Saif H, Li R, Couser NL
Ophthalmic Genet 2022 Feb;43(1):126-129. Epub 2021 Oct 20 doi: 10.1080/13816810.2021.1989601. PMID: 34670449
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
Genet Med 2009 Nov;11(11):769-75. doi: 10.1097/GIM.0b013e3181bd3d90. PMID: 19938245Free PMC Article
Smith JF, Wayment RO, Cartwright PC, Snow BW, Opitz JM
J Urol 2007 Aug;178(2):656-9. Epub 2007 Jun 15 doi: 10.1016/j.juro.2007.04.007. PMID: 17574621
Opitz JM, Richieri-da Costa A, Aase JM, Benke PJ
Am J Med Genet 1988 May-Jun;30(1-2):309-28. doi: 10.1002/ajmg.1320300132. PMID: 3052062
Freire-Maia N, Pinheiro M, Opitz JM
Am J Med Genet 1982 Mar;11(3):329-36. doi: 10.1002/ajmg.1320110309. PMID: 7081297

Diagnosis

Graham JM Jr, Schwartz CE
Am J Med Genet A 2013 Nov;161A(11):2734-40. Epub 2013 Oct 10 doi: 10.1002/ajmg.a.36183. PMID: 24123922Free PMC Article
Graham JM Jr, Clark RD, Moeschler JB, Rogers RC
Am J Med Genet C Semin Med Genet 2010 Nov 15;154C(4):477-85. doi: 10.1002/ajmg.c.30284. PMID: 20981778Free PMC Article
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
Genet Med 2009 Nov;11(11):769-75. doi: 10.1097/GIM.0b013e3181bd3d90. PMID: 19938245Free PMC Article
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
J Med Genet 2009 Jan;46(1):9-13. Epub 2008 Sep 19 doi: 10.1136/jmg.2008.060509. PMID: 18805826
Smith JF, Wayment RO, Cartwright PC, Snow BW, Opitz JM
J Urol 2007 Aug;178(2):656-9. Epub 2007 Jun 15 doi: 10.1016/j.juro.2007.04.007. PMID: 17574621

Therapy

Myers CL, Gopalka A, Glick D, Goldman MB, Dinwiddie SH
J ECT 2007 Dec;23(4):281-3. doi: 10.1097/yct.0b013e3180de5d44. PMID: 18090704
Myers CL, Dinwiddie SH
J ECT 2007 Mar;23(1):33-5. doi: 10.1097/01.yct.0000263261.36915.63. PMID: 17435573

Prognosis

Chanchani SR, Xie H, Sekhon G, Melikishvili AM, Moyer Harasink S, Pall H, Giampietro PF
Mol Genet Genomic Med 2020 Mar;8(3):e1078. Epub 2020 Jan 17 doi: 10.1002/mgg3.1078. PMID: 31951325Free PMC Article
Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Jensen C, Bienek M, Poznański J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM
Clin Genet 2018 Nov;94(5):450-456. Epub 2018 Aug 9 doi: 10.1111/cge.13412. PMID: 30006928
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I
Am J Med Genet A 2017 Mar;173(3):611-617. Epub 2017 Jan 31 doi: 10.1002/ajmg.a.38069. PMID: 28139025
Neri C, Moser K, Pysher TJ, Boettger DR, Neri G, Opitz JM
Fetal Pediatr Pathol 2011;30(2):71-6. doi: 10.3109/15513815.2011.520259. PMID: 21391746
Smith JF, Wayment RO, Cartwright PC, Snow BW, Opitz JM
J Urol 2007 Aug;178(2):656-9. Epub 2007 Jun 15 doi: 10.1016/j.juro.2007.04.007. PMID: 17574621

Clinical prediction guides

Chanchani SR, Xie H, Sekhon G, Melikishvili AM, Moyer Harasink S, Pall H, Giampietro PF
Mol Genet Genomic Med 2020 Mar;8(3):e1078. Epub 2020 Jan 17 doi: 10.1002/mgg3.1078. PMID: 31951325Free PMC Article
Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Jensen C, Bienek M, Poznański J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM
Clin Genet 2018 Nov;94(5):450-456. Epub 2018 Aug 9 doi: 10.1111/cge.13412. PMID: 30006928
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I
Am J Med Genet A 2017 Mar;173(3):611-617. Epub 2017 Jan 31 doi: 10.1002/ajmg.a.38069. PMID: 28139025
Lesca G, Moizard MP, Bussy G, Boggio D, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Des Portes V, Labalme A, Sanlaville D, Edery P, Raynaud M, Lespinasse J
Am J Med Genet A 2013 Dec;161A(12):3063-71. Epub 2013 Aug 16 doi: 10.1002/ajmg.a.36162. PMID: 24039113
Battaglia A, Chines C, Carey JC
Am J Med Genet A 2006 Oct 1;140(19):2075-9. doi: 10.1002/ajmg.a.31302. PMID: 16691600

Recent systematic reviews

Shah A, Bapna M, Al-Saif H, Li R, Couser NL
Ophthalmic Genet 2022 Feb;43(1):126-129. Epub 2021 Oct 20 doi: 10.1080/13816810.2021.1989601. PMID: 34670449

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