Infantile cortical hyperostosis, also known as Caffey disease, is a self-limited disorder that affects infants before 6 months of age and subsides by the age of 2 years. It causes bone changes, soft tissue swelling, and irritability. The typical radiological feature is a marked periosteal new bone formation surrounding the diaphysis of long bones. The bony changes usually resolve completely but sometimes, when paired bones such as the tibia and fibula or radius and ulna, have been affected, a long-term complication of cross-fusion may arise. Similar fusions may occur when adjacent ribs have been involved and may result in a progressive thoracic scoliosis with respiratory compromise. Caffey's disease may also result in facial and mandibular asymmetry. It is estimated that three of every 1000 infants younger than six months of age are affected.
Caffey disease can be inherited in an autosomal dominant manner. Genome-wide mapping of a large family with Caffey disease revealed linkage to chromosome 17q21. Fine mapping reduced the linked region to a 2.3-Mb interval between markers D17S1868 and D17S1877. Collagen, Type I, Alpha-1 (COL1A1) gene was identified to cause Caffey disease and it encodes the main protein present in bones, skin, ligaments, tendons and most other connective tissues.