Disease Information for Osteogenesis imperfecta: Definition

  • Autosomal dominant DISEASES resulting from defective biosynthesis of COLLAGEN TYPE I and characterized by brittle, osteoporotic, and easily fractured bones; It may also present with blue sclerae, loose joints, and imperfect dentin formation; There are four major types, I-IV;---------------------------------------------Osteogenesis Imperfecta; Brittle Bone Disease; Ekman-Lobstein Disease; Lobstein Disease (Type I); OI; Vrolik Disease (Type II); Subdivisions: Osteogenesis Imperfecta Type I; Osteogenesis Imperfecta Type II; Osteogenesis Imperfecta Type III; Osteogenesis Imperfecta Type IV; Osteogenesis imperfecta (OI) is a group of rare disorders affecting the connective tissue and characterized by extremely fragile bones that break or fracture easily (brittle bones), often without apparent cause; The specific symptoms and physical findings associated with OI vary greatly from case to case; The severity of OI also varies greatly, even among individuals of the same family; OI may be a mild disorder or may result in severe complications; Four main types of OI have been identified; OI type I is the most common and the mildest form of the disorder; OI type II is the most severe; In most cases, the various forms of osteogenesis imperfecta are inherited as autosomal dominant traits; [NORD 2005] ------------------------------------