| H00660 | |
| H number | H00660 |
| Name | Congenital contractural arachnodactyly; Beals syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | FBN2 [HSA:2201] [KO:K23342] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | For Marfan syndrome, see H00653. |
| Other DBs | ICD-11: LD28.00 ICD-10: Q68.8 MeSH: C536211 OMIM: 121050 |
| Reference | PMID:16571647 AUTHORS 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 TITLE The molecular genetics of Marfan syndrome and related disorders. JOURNAL J Med Genet 43:769-87 (2006) DOI:10.1136/jmg.2005.039669 PMID:10633129 AUTHORS Robinson PN, Godfrey M TITLE The molecular genetics of Marfan syndrome and related microfibrillopathies. JOURNAL J Med Genet 37:9-25 (2000) DOI:10.1136/jmg.37.1.9 PMID:7493032 AUTHORS Putnam EA, Zhang H, Ramirez F, Milewicz DM TITLE Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. JOURNAL Nat Genet 11:456-8 (1995) DOI:10.1038/ng1295-456 PMID:20301560 AUTHORS Godfrey M TITLE Congenital Contractural Arachnodactyly JOURNAL GeneReviews (1993) |