Caffey Disease

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Yang, C. Caffey Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/5127 (accessed on 22 September 2026).

Yang C. Caffey Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/5127. Accessed September 22, 2026.

Yang, Catherine. "Caffey Disease" Encyclopedia, https://encyclopedia.pub/entry/5127 (accessed September 22, 2026).

Yang, C. (2020, December 24). Caffey Disease. In Encyclopedia. https://encyclopedia.pub/entry/5127

Yang, Catherine. "Caffey Disease." Encyclopedia. Web. 24 December, 2020.

Caffey Disease

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/caffey-disease

Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Excessive new bone formation (hyperostosis) is characteristic of Caffey disease. The bone abnormalities mainly affect the jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts (diaphyses) of long bones in the arms and legs. Affected bones may double or triple in width, which can be seen by x-ray imaging. In some cases two bones that are next to each other, such as two ribs or the pairs of long bones in the forearms (radius and ulna) or lower legs (tibia and fibula) become fused together. Babies with Caffey disease also have swelling of joints and of soft tissues such as muscles, with pain and redness in the affected areas. Affected infants can also be feverish and irritable.

genetic conditions

References

Cho TJ, Moon HJ, Cho DY, Park MS, Lee DY, Yoo WJ, Chung CY, Choi IH. Thec.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantilecortical hyperostosis (Caffey disease). J Hum Genet. 2008;53(10):947. doi:10.1007/s10038-008-0328-5.
Gensure RC, Mäkitie O, Barclay C, Chan C, Depalma SR, Bastepe M, Abuzahra H,Couper R, Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Jüppner H. Anovel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expandsthe spectrum of collagen-related disorders. J Clin Invest. 2005May;115(5):1250-7.
Glorieux FH. Caffey disease: an unlikely collagenopathy. J Clin Invest. 2005May;115(5):1142-4.
Kamoun-Goldrat A, le Merrer M. Infantile cortical hyperostosis (Caffeydisease): a review. J Oral Maxillofac Surg. 2008 Oct;66(10):2145-50. doi:10.1016/j.joms.2007.09.007. Review.
Navarre P, Pehlivanov I, Morin B. Recurrence of infantile corticalhyperostosis: a case report and review of the literature. J Pediatr Orthop. 2013 Mar;33(2):e10-7. doi: 10.1097/BPO.0b013e318277d3a2. Review.
Ranganath P, Laine CM, Gupta D, Mäkitie O, Phadke SR. COL1A1 mutation in anIndian child with Caffey disease. Indian J Pediatr. 2011 Jul;78(7):877-9. doi:10.1007/s12098-010-0339-z.
Schweiger S, Chaoui R, Tennstedt C, Lehmann K, Mundlos S, Tinschert S.Antenatal onset of cortical hyperostosis (Caffey disease): case report andreview. Am J Med Genet A. 2003 Aug 1;120A(4):547-52. Review.
Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V. Expanding the phenotypic spectrum of Caffey disease. Clin Genet. 2007 Mar;71(3):280-4.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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