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Diseases

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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Symptoms

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What are the symptoms of Caffey disease?

Caffey disease is characterized by excessive new bone formation (hyperostosis). The bone abnormalities mainly affect the jawbone, shoulder blades, collarbones, and the shafts of long bones in the arms and legs. Affected bones may double or triple in width. In some cases, two bones in the forearms or lower legs become fused together. Babies with this condition may also develop swelling of joints and soft tissues with pain and redness in the affected areas. They may also be feverish and irritable.[1] 

The signs and symptoms of Caffey disease are usually apparent by the time an infant is 5 months old. In rare cases, skeletal abnormalities can be detected by ultrasound during the late stages of pregnancy. For unknown reasons, the swelling and pain associated with Caffey disease tend to go away within a few months. The excess bone also disappears as it is reabsorbed by the body through a normal process called bone remodeling. If two bones have been fused, they may remain that way, which can lead to complications such as scoliosis and breathing problems.[1]

Most people with Caffey syndrome have no further problems related to the disorder after early childhood. Occasionally, another episode of hyperostosis occurs years later. In addition, some adults who had Caffey disease have other abnormalities of the bones and connective tissues, including loose joints, stretchy skin or hernias.[1]  
Last updated: 4/15/2014

References
  1. Caffey disease. Genetics Home Reference (GHR). April 2013; http://ghr.nlm.nih.gov/condition/caffey-disease. Accessed 4/15/2014.


Other Names for this Disease
  • Infantile cortical hyperostosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.