Congenital Contractural Arachnodactyly

Common Name(s)

Congenital Contractural Arachnodactyly, Beals Syndrome

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Contractural Arachnodactyly" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Contractural Arachnodactyly" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital Contractural Arachnodactyly" returned 13 free, full-text research articles on human participants. First 3 results:

Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly.
 

Author(s): M L Paulson, K N Olivier, S M Holland

Journal: Int. J. Tuberc. Lung Dis.. 2012 Apr;16(4):561-3.

 

Congenital contractural arachnodactyly (CCA) is caused by mutations within the fibrillin-2 gene (FBN2), which is crucial for microfibril structure. Affected individuals may have contractures, chest wall deformities, scoliosis, abnormal ear folding and elongated limbs. We describe ...

Last Updated: 19 Jul 2012

Go To URL
Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome).
 

Author(s): Tae Matsumoto, Atsushi Watanabe, Makoto Migita, Yoshihiro Gocho, Jun Hayakawa, Shun-ichi Ogawa, Takashi Shimada, Yoshitaka Fukunaga

Journal: J Nippon Med Sch. 2006 Oct;73(5):285-8.

 

We report on an infant with Beals syndrome (congenital contractural arachnodactyly [CCA], MIM 121050) with transient cardiomyopathy showing ballon-like dilatation of the left ventricle that was similar to noncompaction. The patients father and two of his brothers were also found to ...

Last Updated: 19 Nov 2006

Go To URL
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly.
 

Author(s): P A Gupta, D D Wallis, T O Chin, H Northrup, V T Tran-Fadulu, J A Towbin, D M Milewicz

Journal: J. Med. Genet.. 2004 May;41(5):e56.

 

Last Updated: 3 May 2004

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital Contractural Arachnodactyly" returned 2 free, full-text review articles on human participants. First 3 results:

Congenital contractural arachnodactyly (Beals syndrome).
 

Author(s): Ergül Tunçbilek, Yasemin Alanay

Journal:

 

Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 ...

Last Updated: 1 Aug 2006

Go To URL
Congenital contractural arachnodactyly (Beals syndrome).
 

Author(s): D Viljoen

Journal: J. Med. Genet.. 1994 Aug;31(8):640-3.

 

Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder akin to, but usually less severe than, Marfan syndrome. The clinical features are marfanoid habitus, arachnodactyly, crumpled ears, camptodactyly of the fingers and adducted thumbs, mild contractures of ...

Last Updated: 9 Feb 1995

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Development of a Blood Test for Marfan Syndrome
 

Status: Recruiting

Condition Summary: Marfan Syndrome; Marfan Related Disorders; Control Subjects

 

Last Updated: 27 May 2014

Go to URL
Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome
 

Status: Recruiting

Condition Summary: Turner Syndrome; Bicuspid Aortic Valve; Marfan Syndrome

 

Last Updated: 18 Mar 2013

Go to URL

Last Updated: 8 Jun 2010

Go to URL