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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
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Congenital contractural arachnodactyly (CCA) is a genetic disorder that is typically characterized by tall height; skinny, long limbs; long, skinny fingers and toes (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.
- Godfrey M. Congenital Contractural Arachnodactyly. GeneReviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cca#cca. Accessed November 20, 2009.
- Congenital contractural arachnodactyly. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=congenitalcontracturalarachnodactyly. Accessed November 20, 2009.
- Genetics Home Reference (GHR) contains information on Congenital contractural arachnodactyly. Click on the link to go to GHR and review the information.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Congenital contractural arachnodactyly. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Tuncbilek E, Alanay Y. Congenital contractural arachnodactyly (Beals syndrome). Orphanet J Rare Dis. 2006; 1:20.