Caffey disease



What is Caffey disease?

Caffey disease is a bone disorder that most often occurs in babies. It is characterized by the excessive formation of new bone (hyperostosis) in the jaw, shoulder blades, collarbones, and shafts of long bones in the arms and legs. Affected bones may double or triple in width. In some cases, two bones that are next to each other may become fused.

How common is Caffey disease?

Caffey Disease is quite rare and studies suggest that it affects about 4 in every 1000 child around the globe. Researchers are of the opinion that this disease is normally not diagnosed properly as in most cases it goes away as the child grows and with passage of time. Please discuss with your doctor for further information.


What are the symptoms of Caffey disease?

If a child is affected with Caffey Disease, he or she will experience the following three main symptoms:

The soft tissue swelling normally comes on all of a sudden. It is deep and firm. There will also be tenderness of the soft tissues. These lesions may affect several parts of the body to include the mandible, tibia, ulna, scapula, ribs, skull, and the metatarsals. If the mandible is affected the child may refuse to eat, which results in poor growth.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes Caffey disease?

Caffey Disease is caused by mutation of gene COL1A1. This gene functions by providing instructions to make a part of a large molecule known as collagen. Collagens are proteins which function by supporting and strengthening body tissues to include the cartilages, bones, tendons, and skin. This collagen is found in these areas in spaces around the cells. The molecules of the collagen are cross-linked in thin fibrils which are very flexible and strong.

Risk factors

What increases my risk for Caffey disease?

Caffey disease is inherited in an autosomal dominant pattern, but not all people who inherit the mutation develop signs and symptoms. This is due to incomplete penetrance. Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Caffey disease diagnosed?

In majority of cases, Caffey Disease can be diagnosed with just a physical examination of the affected child. Imaging studies in the form of x-rays will show bony changes as well as soft tissue swelling which confirm the diagnosis.

A biopsy of the affected area will help the doctor see changes consistent with Caffey Disease. There are no specific blood tests to confirm the diagnosis of Caffey Disease but if an ESR is checked it will show an elevated count along with elevated alkaline phosphatase levels. Anemia may also be present on CBC and also presence of high white blood cell count.

How is Caffey disease treated?

Caffey Disease normally is a self-limiting condition and resolves on its own with the passage of time and no specific treatment is required. Corticosteroids and NSAIDS may be helpful in controlling the symptoms in severe cases.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Caffey disease?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.


Review Date: March 8, 2018 | Last Modified: March 8, 2018

Want to live your best life?
Get the Hello Doktor Daily newsletter for health tips, wellness updates and more.