H00922 | |
H number | H00922 |
Name | Schinzel-Giedion midface retraction syndrome |
Description | Schinzel-Giedion midface retraction syndrome is a rare congenital disorder characterized by severe mental retardation, midface retraction, cardiac and urogenital malformations, skeletal malformations, and neuroepithelial neoplasia. The disorder is lethal and respiratory failure is the major cause of death. |
Category | Congenital malformation |
Network | - |
Gene | SETBP1 [HSA:26040] [KO:K23217] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD27.0Y ICD-10: Q87.0 MeSH: C536632 OMIM: 269150 |
Reference | PMID:18398855 AUTHORS Lehman AM, McFadden D, Pugash D, Sangha K, Gibson WT, Patel MS TITLE Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. JOURNAL Am J Med Genet A 146A:1299-306 (2008) DOI:10.1002/ajmg.a.32277 PMID:20436468 AUTHORS Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA TITLE De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. JOURNAL Nat Genet 42:483-5 (2010) DOI:10.1038/ng.581 PMID:8160760 AUTHORS Labrune P, Lyonnet S, Zupan V, Imbert MC, Goutieres F, Hubert P, Le Merrer M TITLE Three new cases of the Schinzel-Giedion syndrome and review of the literature. JOURNAL Am J Med Genet 50:90-3 (1994) DOI:10.1002/ajmg.1320500120 |