KEGG   DISEASE: 脳・肋骨・下顎症候群
エントリ  
H01843                                                             
名称    
脳・肋骨・下顎症候群
概要    
Cerebrocostomandibular syndrome (CCMS) is a rare autosomal dominant multiple malformation disorder characterized by posterior rib gaps and Pierre Robin sequence (micrognathia, glossoptosis, and cleft palate). Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. Key radiological findings are of a narrow thorax, multiple posterior rib gaps, and abnormal costo-transverse articulation. Mortality is 35%-50% in the first year of life and death is due to respiratory failure. However, general development progresses well once the initial respiratory problems are survived. Specific mutations in SNRPB, which encodes components of the major spliceosome, have been found to cause CCMS.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD24  主な特徴として骨格の異常を伴う症候群
    H01843  脳・肋骨・下顎症候群
パスウェイ 
hsa03040  Spliceosome
病因遺伝子 
SNRPB [HSA:6628] [KO:K11086]
リンク   
ICD-11: LD24.H
MeSH: C562538
OMIM: 117650
文献    
PMID:5928011
  著者
Smith DW, Theiler K, Schachenmann G
  タイトル
Rib-gap defect with micrognathia, malformed tracheal cartilages, and redundant skin: a new pattern of defective development.
  雑誌
J Pediatr 69:799-803 (1966)
DOI:10.1016/S0022-3476(66)80127-0
文献    
  著者
Tooley M, Lynch D, Bernier F, Parboosingh J, Bhoj E, Zackai E, Calder A, Itasaki N, Wakeling E, Scott R, Lees M, Clayton-Smith J, Blyth M, Morton J, Shears D, Kini U, Homfray T, Clarke A, Barnicoat A, Wallis C, Hewitson R, Offiah A, Saunders M, Langton-Hewer S, Hilliard T, Davis P, Smithson S
  タイトル
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.
  雑誌
Am J Med Genet A 170A:1115-26 (2016)
DOI:10.1002/ajmg.a.37587
文献    
  著者
Ramaswamy P, Negus S, Homfray T, De Rooy L
  タイトル
Severe micrognathia with rib dysplasia: cerebro-costo-mandibular syndrome.
  雑誌
Arch Dis Child Fetal Neonatal Ed 101:F85 (2016)
DOI:10.1136/archdischild-2014-307855
文献    
  著者
Lehalle D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amiel J, Gordon CT
  タイトル
A review of craniofacial disorders caused by spliceosomal defects.
  雑誌
Clin Genet 88:405-15 (2015)
DOI:10.1111/cge.12596
文献    
  著者
Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R, Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP
  タイトル
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
  雑誌
Nat Commun 5:4483 (2014)
DOI:10.1038/ncomms5483
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