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.
Merav Galper is a Radiologist in Gaithersburg, Maryland. Dr. Galper has been practicing medicine for over 12 years and is rated as an Advanced doctor by MediFind in the treatment of Caffey Disease. She is also highly rated in 1 other condition, according to our data. Her top areas of expertise are Caffey Disease, Rhizarthrosis, and Tenosynovitis. Dr. Galper is currently accepting new patients.
John Steinberg is a Podiatric Medicine specialist and a Podiatric Surgeon in Washington, Washington, D.c.. Dr. Steinberg has been practicing medicine for over 28 years and is rated as an Advanced doctor by MediFind in the treatment of Caffey Disease. He is also highly rated in 12 other conditions, according to our data. His top areas of expertise are Hammer Toe, Gangrene, Clubfoot, and Athlete's Foot. Dr. Steinberg is currently accepting new patients.
Mark Theiss is a Sports Medicine specialist and an Orthopedics doctor in Gainesville, Virginia. Dr. Theiss has been practicing medicine for over 48 years and is rated as an Experienced doctor by MediFind in the treatment of Caffey Disease. His top areas of expertise are Osteoarthritis, Caffey Disease, Knee Replacement, and Hip Replacement. Dr. Theiss is currently accepting new patients.
Summary: The North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2) study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family well-being as well as diagnostic efficacy, management planning, and medical outcomes. A clinical trial will be implemented to compare (1) first-line exome sequencing to usu...
Published Date: April 01, 2013Published By: National Institutes of Health