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Congenital contractural arachnodactyly
Other Names for this Disease
- Arachnodactyly, contractural Beals type
- Beals syndrome
- Beals-Hecht syndrome
- Contractures, multiple with arachnodactyly
arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; "crumpled"-looking ears, and curvature of the spine (kyphoscoliosis). Other features might also be present and vary from person to person. CCA is caused by mutations in a gene called FBN2 gene and is inherited in an autosomal dominant pattern. CCA shares similiar signs and symptoms to Marfan syndrome; however, Marfan syndrome is not caused by mutations in the FBN2 gene.Congenital contractural arachnodactyly (CCA) is a genetic disorder that is typically characterized by tall height; skinny, long limbs; long, skinny fingers and toes (
Last updated: 11/20/2009
- Godfrey M. Congenital Contractural Arachnodactyly. GeneReviews. May 4, 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cca#cca. Accessed 11/20/2009.
- Congenital contractural arachnodactyly. Genetics Home Reference. February 2008; http://ghr.nlm.nih.gov/condition=congenitalcontracturalarachnodactyly. Accessed 11/20/2009.
- Genetics Home Reference (GHR) contains information on Congenital contractural arachnodactyly. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital contractural arachnodactyly. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Tuncbilek E, Alanay Y. Congenital contractural arachnodactyly (Beals syndrome). Orphanet J Rare Dis. 2006; 1:20.