Caffey Disease (Infantile Cortical Hyperostosis)
Autosomal dominant
Familial Caffey disease is caused by a specific change in the COL1A1 gene, which makes type I collagen, the most abundant collagen in the body. Some cases are inherited from a parent who had the condition in childhood, while others arise de novo.
Signs and symptoms
Symptoms usually begin in the first months of life, with tender swelling over bones, irritability and sometimes fever. X-rays show new bone forming on the outer layer, most often in the jaw, collarbones and long bones of the arms and legs. Episodes usually resolve by about age two, though they can recur. Less often, adults have loose joints, stretchy skin or bone fragility.
What a diagnosis changes
The condition usually resolves on its own, and care is supportive, with pain relief. Anti-inflammatory medicines, fever relief and pain relief can be used in the short term. Recognising it helps avoid unnecessary tests for infection, injury or tumour. Genetic counselling is recommended; each child of someone who had the condition in childhood has a 50% chance of inheriting the change.
Genes analysed
Also known as
infantile cortical hyperostosis
