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Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) multisystem disease first described in 1975.〔Sensenbrenner JA, Dorst JP, Owens RP. New syndrome of skeletal, dental and hair anomalies. Birth Defects Orig Artic Ser. 1975;11(2):372–379〕 It is inherited in an autosomal recessive fashion, and a number of genes appear to be responsible. Three genes responsible have been identified: intraflagellar transport (IFT)122 (WDR10),〔Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW.(2010) Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Genet. 86(6):949-956〕 IFT43 - a subunit of the IFT complex A machinery of primary cilia,〔Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R. (2011) C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.Med Genet.〕 and WDR35 (IFT121: TULP4)〔Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG. (2010) Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. (2010) Am J Hum Genet. 87(3):418-423〕 It is also known as Sensenbrenner–Dorst–Owens syndrome, Levin Syndrome I and cranioectodermal dysplasia (CED) ==Clinical features== These are pleomorphic and include *dolichocephaly (with or without sagittal suture synostosis) *microcephaly *pre- and postnatal growth retardation *brachydactyly *narrow thorax *rhizomelic dwarfism *epicanthal folds *hypodontia and/or microdontia *sparse, slow-growing, hyperpigmented, fine hair *nail dysplasia *hypohydrosis *chronic renal failure *heart defects *liver fibrosis *visual deficits *photophobia *hypoplasia of the posterior corpus callosum *aberrant calcium homeostasis Electroretinography shows gross abnormalities. Two fetuses of 19 and 23 weeks gestation have also been reported.〔Konstantinidou AE, Fryssira H, Sifakis S, Karadimas C, Kaminopetros P, Agrogiannis G, Velonis S, Nikkels PG, Patsouris E (2009) Cranioectodermal dysplasia: a probable ciliopathy. Am J Med Genet A. 149A(10):2206-2211.〕 They showed acromesomelic shortening, craniofacial characteristics with absence of craniosynostosis, small kidneys with tubular and glomerular microscopic cysts, persistent ductal plate with portal fibrosis in the liver, small adrenals, an enlarged cisterna magna and a posterior fossa cyst. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Sensenbrenner syndrome」の詳細全文を読む スポンサード リンク
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