Caffey Disease (Infantile Cortical Hyperostosis)

Definition

A self-limiting inflammatory disorder of infancy with subperiosteal new bone formation, soft tissue swelling and irritability. Also called infantile cortical hyperostosis.

Aetiology

  • Familial form is autosomal dominant with incomplete penetrance
  • COL1A1 R836C mutation found in familial cases
  • Mutation carriers can show joint laxity and hyperextensible skin
  • Severe prenatal form presents before birth with polyhydramnios
  • Prolonged prostaglandin E infusion produces an identical periostitis

Epidemiology

  • Onset before 5 months of age
  • Sporadic infantile cases are now uncommon

Clinical Features

  • Triad of irritability, tender soft tissue swelling and cortical thickening
  • Mandible most often affected, then clavicle, ulna, tibia and ribs
  • Fever and pseudoparalysis of the affected limb
  • Diaphyseal involvement, sparing the epiphyses and metaphyses

Investigations

  • Radiographs show layered subperiosteal new bone and cortical hyperostosis along the diaphysis
  • Raised ESR, CRP, alkaline phosphatase and platelets, often with anaemia
  • Blood cultures are negative
  • COL1A1 testing in familial cases

Differential Diagnosis

Management

  • Supportive care. Analgesia and NSAIDs through the acute phase
  • Corticosteroids. Short course for severe systemic illness
  • Observation. Remodelling restores bone shape in most children

Prognosis

  • Resolution within months, with occasional recurrence in later childhood
  • Residual mandibular asymmetry, limb bowing or radioulnar synostosis in a minority

References

  1. Gensure RC, Mäkitie O, Barclay C, Chan C, Depalma SR, Bastepe M, Abuzahra H, Couper R, Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Jüppner H. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest. 2005, 115(5), 1250-7. PubMed
  2. Kamoun-Goldrat A, le Merrer M. Infantile cortical hyperostosis (Caffey disease). A review. J Oral Maxillofac Surg. 2008, 66(10), 2145-50. PubMed

Reviewed by Professor Phong Tran, Head of Orthopaedic Surgery, Western Health. Last updated 19 October 2026.