KEGG   DISEASE: H00613Help
Entry
H00613                      Disease                                

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
Skeletal dysplasia
BRITE hierarchy
Gene
COL1A1 [HSA:1277] [KO:K06236]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:18848116 (description, gene)
  Authors
Kamoun-Goldrat A, le Merrer M
  Title
Infantile cortical hyperostosis (Caffey disease): a review.
  Journal
J Oral Maxillofac Surg 66:2145-50 (2008)
Reference
PMID:18553566 (description, gene)
  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)
Reference
PMID:21567126 (description, gene)
  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 (2011)

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