Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.
Mutations in at least nine genes cause the various types of osteopetrosis. Mutations in the CLCN7 gene are responsible for about 75 percent of cases of autosomal dominant osteopetrosis, 10 to 15 percent of cases of autosomal recessive osteopetrosis, and all known cases of intermediate autosomal osteopetrosis. TCIRG1 gene mutations cause about 50 percent of cases of autosomal recessive osteopetrosis. Mutations in other genes are less common causes of autosomal dominant and autosomal recessive forms of the disorder. The X-linked type of osteopetrosis, OL-EDA-ID, results from mutations in the IKBKG gene. In about 30 percent of all cases of osteopetrosis, the cause of the condition is unknown.
Autosomal dominant osteopetrosis is the most common form of the disorder, affecting about 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, occurring in an estimated 1 in 250,000 people.
Osteopetrosis can have several different patterns of inheritance. Most commonly, the disorder has an autosomal dominant inheritance pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Most people with autosomal dominant osteopetrosis inherit the condition from an affected parent.
Michael Whyte is an Endocrinologist in St. Louis, Missouri. Dr. Whyte has been practicing medicine for over 50 years and is rated as an Elite doctor by MediFind in the treatment of Osteopetrosis. He is also highly rated in 18 other conditions, according to our data. His top areas of expertise are Hypophosphatemia, Rickets, Hypophosphatasia, and X-Linked Hypophosphatemia. He is licensed to treat patients in Missouri. Dr. Whyte is currently accepting new patients.
Eleonora Palagano is in Milan, Italy. Palagano is rated as an Elite expert by MediFind in the treatment of Osteopetrosis. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Osteopetrosis, Osteosclerosis Autosomal Dominant, Acrofacial Dysostosis Rodriguez Type, and Acrofrontofacionasal Dysostosis Syndrome.
Kim Henriksen is in Herlev, Denmark. Henriksen is rated as an Elite expert by MediFind in the treatment of Osteopetrosis. They are also highly rated in 5 other conditions, according to our data. Their top areas of expertise are Osteopetrosis, Osteosclerosis Autosomal Dominant, Osteoporosis, and Osteoarthritis.
Published Date: September 01, 2010Published By: National Institutes of Health