It usually occurs during the first 6 months of life and presents with periosteal new bone formation. The mandible is the most frequently affected bone, and its involvement is virtually pathognomonic. In addition to these changes, which can appear quite prominently on x-ray, the involved bones may also appear inflamed, with painful swelling and systemic fever often accompanying the illness.

It can simulate a systemic infection with fever and leucocytosis and is characterised by soft tissue swellings over the clavicle. There are many symptoms of caffey disease some include soft-tissue swelling, bone lesions, and irritability. The swelling occurs suddenly, is deep, firm, and may be tender. Lesions are often asymmetric and may affect several parts of the body. Affected bones have included the mandible, tibia, ulna, clavicle, scapula, ribs, humerus, femur, fibula, skull, ilium, and metatarsals. Caffey disease has a worldwide distribution. Both sporadic and familial occurrences are reported. Caffey disease affects boys and girls equally.

The disease has been reported to influence 3 per 1000 infants younger than 6 months in the United States. The familial form is inherited in an autosomal dominant fashion with variable penetrance. The familial form tends to have an earlier onset and is present at birth in 24% of cases, with an average age at onset of 6.8 weeks. Infantile cortical hyperostosis is a self-limited condition, meaning that the disease resolves on its own without treatment, usually within 6-9 months. Long-term deformities of the involved bones, including bony fusions and limb-length inequalities.