Caffey syndrome (infantile cortical hyperostosis) is a rare, self-limited bone disease affecting infants. Typically, Caffey syndrome occurs in infants younger than 5 months of age and manifests with fever, irritability, and tender or painful soft-tissue swelling. Most commonly affected bone sites include the mandible, ulna, and clavicle. Less commonly, other long bones, ribs, scapula, and skull may be affected. Surrounding muscles and connective tissue may be affected. Presentation may include low birth weight, recurrent episodes of hypocalcemia, and skeletal (cortical thickening, medullary stenosis), head (macrocephaly, prominent forehead, metopic suture), and ocular abnormalities (microphthalmia, papilledema, hyperopia).

Even though Caffey syndrome is typically thought to be inherited in an autosomal dominant manner and caused by a COL1A1 gene mutation, there are cases where no COL1A1 gene mutation was identified. Additional genetic or environmental factors may also be involved, including viral infection. Anemia, leukocytosis, increased erythrocyte sedimentation rate, and elevation of serum alkaline phosphatase concentration are usually present.

Cortical hyperostosis (thickening or bony expansion) is apparent in radiographic imaging and may be noticed on physical examination. Although clinical course is variable, prognosis is good as acute symptoms typically resolve over a period of a months without complications (usually prior to age 2). Occasionally, the patient may experience relapses years later. Rarely, patients who had Caffey syndrome during childhood may experience joint laxity, skin hyperextensibility, hernias, or other deformities in adulthood.

Management is primarily supportive and is targeted at providing pain relief to the patient. Genetic counseling is recommended for affected individuals and their families. A more severe and potentially lethal form of the disease, prenatal cortical hyperostosis, occurs before or shortly after birth, but this is generally considered a separate disease.