| H01843 | |
| H番号 | 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 |
| ネットワーク | - |
| 病因遺伝子 | SNRPB [HSA:6628] [KO:K11086] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.H ICD-10: Q87.8 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 PMID:26971886 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 PMID:26240113 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 PMID:25865758 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 PMID:25047197 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 |