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

• Acute osteomyelitis
• Non-accidental injury
• Scurvy
• Hypervitaminosis A
• Congenital syphilis
• Leukaemia and metastatic neuroblastoma

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

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