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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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 19 free, full-text research articles on human participants. First 3 results:

Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly.
 

Author(s): Guoling You, Bailing Zu, Bo Wang, Zhigang Wang, Yunlan Xu, Qihua Fu

Journal:

 

Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue. CCA is characterized by arachnodactyly, camptodactyly, contrature of major joints, scoliosis, pectus deformities, and crumpled ears. The present study aimed to identify the genetic ...

Last Updated: 5 Apr 2017

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Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly.
 

Author(s): Xingping Guo, Chunying Song, Yaping Shi, Hongxia Li, Weijing Meng, Qinzhao Yuan, Jinjie Xue, Jun Xie, Yunxia Liang, Yanan Yuan, Baofeng Yu, Huaixiu Wang, Yun Chen, Lixin Qi, Xinmin Li

Journal:

 

Congenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide. People with this condition often have permanently bent joints (contractures), like bent fingers and toes (camptodactyly).

Last Updated: 3 Dec 2016

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The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy.
 

Author(s): Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Wanjun Wang, Jie Li, Guijun Yan, Haixiang Sun

Journal: J. Assist. Reprod. Genet.. 2016 Nov;33(11):1459-1466.

 

To investigate the usefulness of preimplantation genetic diagnosis (PGD) for the patient affected by congenital contractural arachnodactyly (CCA) and spinal and bulbar muscular atrophy (SBMA).

Last Updated: 9 Jul 2016

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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

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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

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 23 Jun 2016

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Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome.
 

Status: Not yet recruiting

Condition Summary: Marfan Syndrome

 

Last Updated: 25 Oct 2017

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Development of a Blood Test for Marfan Syndrome
 

Status: Recruiting

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

 

Last Updated: 4 Jan 2017

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