Caffey DiseaseSymptoms, Doctors, Treatments, Advances & More
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.
Orthopaedic Associates Of Reading, Ltd
. Dr. Stapinski is rated as a Distinguished provider by MediFind in the treatment of Caffey Disease. His top areas of expertise are Caffey Disease, Osteoarthritis, Bursitis, Tendinitis, and Hip Replacement.
Orthopaedic Associates Of Reading, Ltd
. Dr. Michels is rated as a Distinguished provider by MediFind in the treatment of Caffey Disease. His top areas of expertise are Caffey Disease, Osteoarthritis, Bursitis, Tenosynovitis, and Hip Replacement.
Proliance Surgeons
Dr. Mark Reed is a board-certified orthopedic surgeon providing specialty care of all foot and ankle disorders. He treats both adolescents and adults with a special focus on sports-related injuries, including ankle instability, cartilage lesions, and Achilles tendon injuries. He also performs joint replacements and reconstructive surgery for degenerative conditions such as arthritis and tendon dysfunction. In addition, he provides state-of-the-art treatment in the areas of fracture care and sports medicine.Dr. Reed worked for seven years as a mechanical engineer for a contractor to the Department of Defense before changing careers and enrolling in medical school. As an engineer he designed missile guidance systems and was part of the team that developed the jet engine for the F-22 Advanced Tactical Fighter.He earned his medical degree at the University of Alabama School of Medicine. His background in engineering fostered an interest in orthopedics, driving him to an orthopedic surgical residency at the University of Massachusetts. As a chief resident, he was selected as the recipient of the esteemed John J. Monahan award, given to the physician who best embodies patient-centered care.After his general orthopedics training, Dr. Reed was accepted at the Union Memorial Hospital Foot and Ankle Fellowship in Baltimore, Maryland, considered to be one of the most prestigious foot and ankle fellowship programs in the country. He trained under three of the leaders in the foot and ankle community, including the recent president of the American Orthopaedic Foot and Ankle Society, and participated in cutting-edge biomechanical and clinical research during his time in Baltimore.He has undergone advanced training in ankle joint replacement, including the Scandinavian Total Ankle Replacement (STAR) prosthesis, as well as in reconstructive procedures, including bunion, hammertoe, and flatfoot deformity correction.Dr. Reed is excited to join the Seattle medical community and to experience all the Pacific Northwest has to offer. Outside of work, he enjoys spending time with his wife and his three sons. He also enjoys golf, tennis, working out, and spending time outdoors. Dr. Reed is rated as an Advanced provider by MediFind in the treatment of Caffey Disease. His top areas of expertise are Synovial Osteochondromatosis, Tendinitis, Freiberg's Disease, and Caffey Disease.
Published Date: April 01, 2013
Published By: National Institutes of Health