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.
Aligned Orthopedic Partners
A graduate of Queens College and Georgetown University School of Medicine, Dr. Fisch trained in orthopedic surgery at the Montefiore/ Albert Einstein College of Medicine in New York. He received spine training at the Spinecare/ St. Mary’s/ Stanford University Combined Spine Fellowship Program. His areas of special interest include surgery of the cervical, lumbar, and thoracic spine. As a diplomate of the American Board of Orthopaedic Surgery and a Fellow of the American Academy of Orthopaedic Surgeons, Dr. Fisch is trained in all aspects of spine surgery instrumentation, using anterior and posterior approaches. In addition, he is a leader in state-of-the-art spine injections, which frequently enable patients to avoid surgery.SpecialtiesCervical, Thoracic, and Lumbar SpinePrivilegesDr. Fisch performs surgery at Surgical Specialty Center of Mid-Atlantic, Suburban Hospital and the Surgery Center of Rockville. Dr. Fisch is rated as an Experienced provider by MediFind in the treatment of Caffey Disease. His top areas of expertise are Sciatica, Invertebral Disc Disease, Diffuse Idiopathic Skeletal Hyperostosis, Microdiscectomy, and Cervical Disc Surgery.
Proliance Puget Sound Orthopaedics
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.
Duke Health Integrated Practice Inc
Gretchen Kimmick is a Hematologist Oncology specialist and an Oncologist in Burlington, North Carolina. Dr. Kimmick is rated as an Advanced provider by MediFind in the treatment of Caffey Disease. Her top areas of expertise are Breast Cancer, Paget Disease of the Breast, Angiosarcoma, and Inflammatory Breast Cancer. Dr. Kimmick is currently accepting new patients.
Published Date: April 01, 2013
Published By: National Institutes of Health