Congenital contractural arachnodactyly
Other Names for this Disease
- Arachnodactyly, contractural Beals type
- Beals syndrome
- Beals-Hecht syndrome
- Contractures, multiple with arachnodactyly
Your QuestionI have Beals syndrome (also known as congenital contractural arachnodactyly). I am a 19-year-old female and I was wondering how tall I would be because of this condition? The symptom is having a tall stature, but how tall? I'm 5'3 right now.
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Questions on this page
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.
Last updated: 11/20/2009
Because many factors influence a person's height, we cannot comment on how tall you will be. We searched the medical literature to learn more about how a person's height might be affected by CCA, and we found that limited information exist regarding this topic. An article by Callewaert et al. (2009) states that patients tend to be tall (>90th percentile) from birth onward, in the absence of scoliosis. However, it is important to note that symptoms vary from person to person; therefore, not all affected people are taller than other people in their family.
Last updated: 7/23/2009
- 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.
- Callewaert BL, Loeys BL, Ficcadenti A, Vermeer S, Landgren M, Kroes HY. Comprehensive Clinical and Molecular Assessment of 32 Probands With Congenital Contractural Arachnodactyly: Report of 14 Novel Mutations and Review of the Literature. Human Mutation. 2009;