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GENATLAS PHENOTYPE
last update : 27-08-2010
Symbol ICHO
Location 17q21.33
Name infantile cortical hyperostosis
Other name(s) Caffey disease
Corresponding gene COL1A1
Main clinical features
  • characterized by spontaneous episodes of subperiosteal new bone formation along 1 or more bones commencing within the first 5 months of life, acute manifestations inflammatory in nature, with fever and hot, tender swelling of involved bones (e.g., mandible, ribs)
  • hyperirritability, acute inflammation of soft tissues, and massive subperiosteal new bone formation; typically appears in early infancy and is considered a benign self-limiting disease.
  • associated to joint hyperlaxity, hyperextensible skin, and inguinal hernias resembling symptoms of a mild form of Ehlers-Danlos syndrome type III
  • in any cases, short stature and persistent bony deformities
  • Genetic determination autosomal dominant
    Related entries including Prenatal Cortical Hyperostosis, Lethal
    Function/system disorder osteo-articular
    Type disease
    Remark(s)