Congenital contractural arachnodactyly
Other Names for this Disease
- Arachnodactyly, contractural Beals type
- Beals syndrome
- Beals-Hecht syndrome
- CCA syndrome
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.
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
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;