Other Names for this Disease
- Bowen Hutterite syndrome (formerly)
- Bowen-Conradi Hutterite syndrome
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.Bowen-Conradi syndrome is a very rare genetic disorder characterized by growth delays before birth,
Last updated: 4/22/2011
- Orphanet. Bowen-Conradi syndrome. 2004; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1270. Accessed 4/21/2011.
- 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.
- Genetics Home Reference (GHR) contains information on Bowen-Conradi syndrome. 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.
- 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 Bowen-Conradi syndrome. Click on the link to view a sample search on this topic.