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Genetic and Rare Diseases Information Center (GARD)

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Caffey disease

Other Names for this Disease
  • Infantile cortical hyperostosis
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Caffey disease is a bone disorder that most often occurs in babies. It is characterized by the excessive formation of new bone (hyperostosis) in the jaw, shoulder blades, collarbones, and shafts of long bones in the arms and legs. Affected bones may double or triple in width. In some cases, two bones that are next to each other may become fused. Caffey disease is caused by a mutation in the COL1A1 gene. It is inherited in an autosomal dominant pattern, but not all people who inherit the mutation develop signs and symptoms. This is due to incomplete penetrance.[1] 
Last updated: 4/15/2014


  1. Caffey disease. Genetics Home Reference (GHR). April 2013; Accessed 4/15/2014.
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Basic Information

  • Genetics Home Reference contains information on Caffey disease. This website is maintained by the National Library of Medicine.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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 Caffey disease. Click on the link to view a sample search on this topic.