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Diseases

Genetic and Rare Diseases Information Center (GARD)

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BOD syndrome


Other Names for this Disease
  • Brachymorphism onychodysplasia dysphalangism syndrome
  • Brachymorphism-onychodysplasia-dysphalangism syndrome
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Overview


BOD syndrome is a genetic condition characterized by underdeveloped “pinky” toenails or fingernails, normal intellect to mild intellectual disability, distinct facial features, and short stature. The cause of the condition is not known. BOD syndrome is thought to be inherited in an autosomal dominant fashion, however in many cases the condition occurs for the first time in a family due to a new mutation. Signs and symptoms of BOD syndrome are similar to, albeit milder than that of, Coffin-Siris syndrome. The relationship between these syndromes is presently unknown.[1]
Last updated: 9/15/2013

References

  1. Brautbar A, Ragsdale J, Shinawi M. Is this the Coffin–Siris syndrome or the BOD syndrome?. Am J Med Genet Part A . 2009;149A:559–562; http://www.ncbi.nlm.nih.gov/pubmed/19215055. Accessed 9/13/2013.
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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 BOD syndrome. Click on the link to view a sample search on this topic.