Osteogenesis Imperfecta Disease database

Description: Osteogenesis Imperfecta: "Autosomal dominant COLLAGEN 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." Source: Medical Subject Headings, 2007_2006_08_08 "autosomal dominant collagen disease resulting from defective biosynthesis of collagen type I and characterized by brittle, osteoporotic, and easily fractured bones; may also present with blue sclerae, loose joints, and imperfect dentin formation." Source: CRISP Thesaurus, 2006 Osteogenesis imperfecta aka/or Brittle bone disease may cause or feature Miscellaneous syndromes Pathological fracture Symptoms and Signs Blue sclerae Conductive hearing loss Disproportionate short stature Facies abnormality Genu varum Hypotonia (skeletal muscle) Joint hypermobility Kyphosis Scoliosis Short stature Tooth abnormalities Congenital conditions Collagen disorder, hereditary Cardiac and vascular conditions Mitral valve incompetence