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Diseases

Genetic and Rare Diseases Information Center (GARD)

Congenital contractural arachnodactyly


Other Names for this Disease
  • Beals syndrome
  • Arachnodactyly, contractural Beals type
  • Contractures, multiple with arachnodactyly
  • Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
  • Beals-Hecht syndrome
Related Diseases
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Overview

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.[1][2] CCA shares similiar signs and symptoms to Marfan syndrome; however, Marfan syndrome is not caused by mutations in the FBN2 gene.
Last updated: 2/9/2015

References

  1. Godfrey M. Congenital Contractural Arachnodactyly. GeneReviews. February 23, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1386/. Accessed 2/9/2015.
  2. Congenital contractural arachnodactyly. Genetics Home Reference. July 2013; http://ghr.nlm.nih.gov/condition/congenital-contractural-arachnodactyly. Accessed 2/9/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Congenital contractural arachnodactyly. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • 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.

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.
Other Names for this Disease
  • Beals syndrome
  • Arachnodactyly, contractural Beals type
  • Contractures, multiple with arachnodactyly
  • Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
  • Beals-Hecht syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.