Caffey Disease or Infantile Cortical Hyperostosis (ICH)
Caffey disease is a dominantly inherited disorder characterized by hyperirritability, inflammation of soft tissues and subperiosteal new bone formation. It typically appears in early infancy as originally reported in a large Canadian family. The clinical description in recent reported families includes short stature, compression fractures, scoliosis, and genu varus.
References:
Gensure et al J Clin Invest 115: 1250-1257, 2005 A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.