| H00660 | |
| H番号 | H00660 |
| 名称 | 先天性拘縮性クモ指症; Beals 症候群 |
| 概要 | Congenital contractural arachnodactyly (CCA) or Beals syndrome is an autosomal dominant disorder characterized by a Marfan-like appearance and arachnodactyly. Most affected individuals have 'crumpled' ears, contractures of major joints, and camptodactyly. Additional features include muscular hypoplasia and scoliosis. In contrast to Marfan syndrome, CCA does not affect the aorta or the eyes. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | FBN2 [HSA:2201] [KO:K23342] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | For Marfan syndrome, see H00653. |
| リンク | ICD-11: LD28.00 ICD-10: Q68.8 MeSH: C536211 OMIM: 121050 |
| 文献 | PMID:16571647 著者 Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M タイトル The molecular genetics of Marfan syndrome and related disorders. 雑誌 J Med Genet 43:769-87 (2006) DOI:10.1136/jmg.2005.039669 PMID:10633129 著者 Robinson PN, Godfrey M タイトル The molecular genetics of Marfan syndrome and related microfibrillopathies. 雑誌 J Med Genet 37:9-25 (2000) DOI:10.1136/jmg.37.1.9 PMID:7493032 著者 Putnam EA, Zhang H, Ramirez F, Milewicz DM タイトル Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. 雑誌 Nat Genet 11:456-8 (1995) DOI:10.1038/ng1295-456 PMID:20301560 著者 Godfrey M タイトル Congenital Contractural Arachnodactyly 雑誌 GeneReviews (1993) |