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
Brian Stapinski is an Orthopedics provider practicing medicine in Reading, Pennsylvania. Dr. Stapinski is rated as a Distinguished provider by MediFind in the treatment of Caffey Disease. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Caffey Disease, Osteoarthritis, Bursitis, Tendinitis, and Hip Replacement. Dr. Stapinski is board certified in American Board Of Orthopaedic Surgery.
Orthopaedic Associates Of Reading, Ltd
Ryan Michels is an Orthopedics provider practicing medicine in Reading, Pennsylvania. Dr. Michels is rated as a Distinguished provider by MediFind in the treatment of Caffey Disease. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Caffey Disease, Osteoarthritis, Bursitis, Tenosynovitis, and Hip Replacement. Dr. Michels is board certified in American Board Of Orthopaedic Surgery.
Orthopaedic Associates Of Reading, Ltd
Christopher Mancuso is a Sports Medicine specialist and an Orthopedics provider practicing medicine in Reading, Pennsylvania. Dr. Mancuso is rated as an Advanced provider by MediFind in the treatment of Caffey Disease. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Osteoarthritis, Tendinitis, Caffey Disease, Bursitis, and Hip Replacement. Dr. Mancuso is board certified in American Board Of Orthopaedic Surgery.
Published Date: April 01, 2013
Published By: National Institutes of Health