Learn About Caffey Disease

What is the definition of Caffey Disease?

Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Excessive new bone formation (hyperostosis) is characteristic of Caffey disease. The bone abnormalities mainly affect the jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts (diaphyses) of long bones in the arms and legs. Affected bones may double or triple in width, which can be seen by x-ray imaging. In some cases two bones that are next to each other, such as two ribs or the pairs of long bones in the forearms (radius and ulna) or lower legs (tibia and fibula) become fused together. Babies with Caffey disease also have swelling of joints and of soft tissues such as muscles, with pain and redness in the affected areas. Affected infants can also be feverish and irritable.

What are the causes of Caffey Disease?

A mutation in the COL1A1 gene causes Caffey disease. The COL1A1 gene provides instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, and skin. In these tissues, type I collagen is found in the spaces around cells. The collagen molecules are cross-linked in long, thin, fibrils that are very strong and flexible. Type I collagen is the most abundant form of collagen in the human body.

How prevalent is Caffey Disease?

Caffey disease has been estimated to occur in approximately 3 per 1,000 infants worldwide. A few hundred cases have been described in the medical literature. Researchers believe this condition is probably underdiagnosed because it usually goes away by itself in early childhood.

Is Caffey Disease an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is usually sufficient to cause the disorder. About 20 percent of people who have the mutation that causes Caffey disease do not experience its signs or symptoms; this phenomenon is called incomplete penetrance.

Who are the top Caffey Disease Local Doctors?

First State Orthopaedics PA

4745 Ogletown Stanton Rd, Suite 238, 
Newark, DE 
 5.8 mi
Accepting New Patients

Eric Johnson is an Orthopedics provider in Newark, Delaware. Dr. Johnson and is rated as an Advanced provider by MediFind in the treatment of Caffey Disease. His top areas of expertise are Osteoarthritis, Caffey Disease, Bursitis, Hip Replacement, and Knee Replacement. Dr. Johnson is currently accepting new patients.

Premier Orthopaedic And Sports Medicine Associates, Ltd

701 N Clayton St, St Francis Hospital Med Se, 
Wilmington, DE 
 6.1 mi

Charles Hummer is an Orthopedics provider in Wilmington, Delaware. Dr. Hummer and is rated as an Advanced provider by MediFind in the treatment of Caffey Disease. His top areas of expertise are Osteoarthritis, Caffey Disease, Tendinitis, Tenosynovitis, and Hip Replacement.

 
 
 
 
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First State Orthopaedics PA

1000 Twin C Ln, Suite 100, 
Newark, DE 
 5.3 mi

Anush Parikh is a Radiologist in Newark, Delaware. Dr. Parikh and is rated as an Experienced provider by MediFind in the treatment of Caffey Disease. His top areas of expertise are Insulinoma, Scoliosis, Lung Nodules, and Neonatal Ovarian Cyst.

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Who are the sources who wrote this article ?

Published Date: April 01, 2013
Published By: National Institutes of Health

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