| H00613 | |
| H number | H00613 |
| Name | Infantile cortical hyperostosis; Caffey disease |
| Description | Infantile cortical hyperostosis (ICH) is a self-limiting inflammatory disease characterized by swelling of soft tissues and periosteal hyperostosis mainly affecting long bones, mandible, clavicles, and ribs. It usually affects infants less than 6 months of age and spontaneously heals in the first year of life. However severe prenatal form of ICH is lethal in which extensive hyperostosis affects nearly all long bones and the fetus presents with polyhydramnios. |
| Category | Musculoskeletal disease |
| Network | - |
| Gene | COL1A1 [HSA:1277] [KO:K06236] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.1Y ICD-10: M89.8 MeSH: D006958 OMIM: 114000 |
| Reference | PMID:18848116 AUTHORS Kamoun-Goldrat A, le Merrer M TITLE Infantile cortical hyperostosis (Caffey disease): a review. JOURNAL J Oral Maxillofac Surg 66:2145-50 (2008) DOI:10.1016/j.joms.2007.09.007 PMID:18553566 AUTHORS Kamoun-Goldrat A, Martinovic J, Saada J, Sonigo-Cohen P, Razavi F, Munnich A, Le Merrer M TITLE Prenatal cortical hyperostosis with COL1A1 gene mutation. JOURNAL Am J Med Genet A 146A:1820-4 (2008) DOI:10.1002/ajmg.a.32351 PMID:21567126 AUTHORS Cerruti-Mainardi P, Venturi G, Spunton M, Favaron E, Zignani M, Provera S, Dallapiccola B TITLE Infantile cortical hyperostosis and COL1A1 mutation in four generations. JOURNAL Eur J Pediatr 170:1385-90 (2011) DOI:10.1007/s00431-011-1463-0 |