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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Bowen-Conradi syndrome


Other Names for this Disease
  • Bowen Hutterite syndrome (formerly)
  • Bowen-Conradi Hutterite syndrome
  • BWCNS
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Overview


Bowen-Conradi syndrome is a very rare genetic disorder characterized by growth delays before birth, failure to thrive during infancy, and malformations of the head and facial area. Other physical abnormalities include small head, prominent nose, small chin, mild joint restriction, clinodactyly, camptodactyly, foot deformities, and/or undescended testes (cryptorchidism) in affected males. Some affected infants may also have kidney, brain, and/or other abnormalities. Many infants die within the first few months of life. This condition is inherited in an autosomal recessive fashion.[1][2]
Last updated: 4/22/2011

References

  1. Orphanet. Bowen-Conradi syndrome. 2004; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1270. Accessed 4/21/2011.
  2. Bowen Hutterite Syndrome. National Organization for Rare Disorders (NORD). http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Bowen%20Hutterite%20Syndrome. Accessed 4/21/2011.
Your Questions Answered
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Please contact us with your questions about Bowen-Conradi syndrome. We will answer your question and update these pages with new resources and information.

Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Bowen-Conradi syndrome. Click on the link to view a sample search on this topic.