KEGG   DISEASE: Schinzel-Giedion midface retraction syndrome
Entry
H00922                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00922  Schinzel-Giedion midface retraction syndrome
Gene
SETBP1 [HSA:26040] [KO:K23217]
Other DBs
ICD-11: LD27.0Y
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
Reference
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
Reference
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

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