Caffey Disease: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Caffey Disease?
A pediatrician is usually the first to see the baby and often works with specialists, such as a pediatric radiologist, a geneticist, or an orthopedist. A team approach helps rule out other causes. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What it is
Caffey disease is a rare condition that affects the bones of babies. It is also called infantile cortical hyperostosis, meaning too much bone grows on the outer surface of bones, usually along the jaw, collarbone, arms, or legs. Most babies show signs before they are five months old. The swelling can look alarming, but it usually gets better on its own.
Symptoms
The most common sign is soft tissue swelling, often near the jaw, making a baby's cheeks look full. The swollen area is usually tender and may feel warm. Other symptoms include fever, irritability, and eating less because chewing hurts.
Causes and who gets it
Doctors do not fully understand the cause. Some cases run in families and have been linked to changes in a gene called COL1A1, which helps the body make collagen. Other cases happen without any family history. The condition almost always starts in infancy and affects boys and girls.
How doctors diagnose it
Doctors start with a physical exam and family history. X-rays are the main tool, showing extra bone on the outside of the normal bone. Blood tests help rule out conditions that look similar, such as bone infections or injuries.
Treatment
Treatment focuses on keeping the baby comfortable, since the disease often gets better on its own. Doctors may recommend medicines that reduce pain and fever; in severe cases, they sometimes prescribe corticosteroids. Most children see episodes stop as they get older.
When to see a doctor
Any baby with unexplained swelling, fever, or fussiness should be seen promptly. These symptoms can also signal infection or injury, so it is safer to have a doctor check rather than wait.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance; a concierge doctor usually charges more and often works alongside insurance. Either can be a helpful first stop, offering longer appointments and easier access, and can refer the family to a pediatric specialist when needed.
Common questions
Does Caffey disease go away?
For most children, the episodes of swelling become less frequent and eventually stop. Some bone changes can remain visible on X-rays into adulthood. Each child's outcome is different, so regular follow-up with a doctor is helpful.
Is Caffey disease inherited?
Some cases run in families and are linked to a change in the COL1A1 gene. Many cases appear in babies with no family history at all. A geneticist can help families who want to understand the pattern in their own family.
Can adults get Caffey disease?
The classic form starts in infancy. Adults who had it as babies may keep mild bone changes. Very rare adult-onset forms have been reported. Anyone with unexplained bone swelling should see a doctor for evaluation.
Is Caffey disease dangerous?
The condition is usually not life threatening, and most children improve over time. The main concern early on is making sure the symptoms are not caused by something else, such as an infection. That is why a doctor should evaluate any baby with these signs.
Sources
- NIH Genetic and Rare Diseases Information Center - Infantile cortical hyperostosis
- MedlinePlus Genetics - COL1A1 gene
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
