KEGG DISEASE: Infantile cortical hyperostosis

KEGG

DISEASE: Infantile cortical hyperostosis

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

Musculoskeletal disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00613  Infantile cortical hyperostosis
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00613  Infantile cortical hyperostosis

Pathway

hsa04820 Cytoskeleton in muscle cells

Network

nt06539 Cytoskeleton in muscle cells

Gene

COL1A1 [HSA:1277] [KO:K06236]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

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

Reference

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

Reference

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

LinkDB

» Japanese version

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