Variants
infantile cortical hyperostosis
lethal infantile cortical hyperostosis
Etiology
Caffey disease is caused by mutation in the alpha-1 collagen type I gene (COL1A1) (MIM.120150).
References
Pomerance HH, Wallis-Crespo C, Barness EG. Lethal infantile cortical hyperostosis. Fetal Pediatr Pathol. 2005 Mar-Apr;24(2):89-94. PMID: 16243753