Learn About 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.
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.
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.
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.
Proliance Surgeons
Philip Yearian, DPM, is a board-certified surgeon specializing in the lower extremity treatment of the foot and ankle. He believes that staying on the forefront of treatment involves educating his patients, which leads to better outcomes.While competing as a Division I Track and Field athlete in the 3000 meters Steeplechase and Cross Country at the University of Portland, his own injuries introduced him to some of the very treatments he uses today to get patients back on their way to a non-painful walk or ultra-marathon.His training involved specializing in both bone and plastic reconstructive surgery. After over twenty years in practice in Gig Harbor and Tacoma, Dr. Yearian has improved some of these very techniques, which now allow some patients to shorten their recovery and return to play or work sooner.Dr. Yearian coaches basketball at St. Charles Borromeo Catholic School. He also enjoys running marathons, skiing, traveling and teaching for the Franciscan Foot and Ankle Reconstructive Residency program. Dr. Yearian is rated as an Advanced provider by MediFind in the treatment of Caffey Disease. His top areas of expertise are Bunions, Flat Feet, Synovitis, and Tendinitis.
Summit Orthopedics
Steve Sabers, M.D., is an interventional spine physician specializing in neck, back, and spine care, serving Minneapolis/St. Paul patients. He has a special interest in aggressive nonsurgical care for spine-related problems and also teaches fluoroscopic anatomy and spine procedures. “The strength of our Summit Orthopedics spine care is in the breadth of the care we are able to offer. I have an entire spectrum of treatment options at my fingertips,” he explains. “This comprehensive treatment model enables us to really give the patient the best available option for his or her problem without any lengthy waits or delays. When my patients come in and tell me that they’ve gotten their life back, that’s incredibly rewarding.”. Dr. Sabers is rated as an Advanced provider by MediFind in the treatment of Caffey Disease. His top areas of expertise are Cervical Spondylosis, Spinal Stenosis, Spondylolisthesis, and Facet Joint Syndrome.
Summit Orthopedics
David Spight, D.O., is an interventional spine physician at Summit Orthopedics serving Minneapolis/St. Paul patients. He specializes in nonsurgical treatment of neck, back, and spine conditions and injuries. He has a particular interest in physical medicine and rehabilitation as well as lumbar spine disorders. He completed his fellowship in Interventional Pain Management, Spine Technology and Rehabilitation in Fort Wayne, Indiana. “My greatest satisfaction in medicine is having the opportunity to educate patients about the relationship between structure and function, which allows them to gain the necessary knowledge to become active participants in their care,” Dr. Spight says. Dr. Spight is rated as an Advanced provider by MediFind in the treatment of Caffey Disease. His top areas of expertise are Coccydynia, Cervical Spondylosis, Spinal Stenosis, and Facet Joint Syndrome.
Published Date: April 01, 2013
Published By: National Institutes of Health