Osteopetrosis autosomal recessive 1
Type of disease: Rare conditions
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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.