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All Diseases > Brittle Bone Disorders (BBD) / Osteogenesis Imperfecta (OI)
Brittle Bone Disorders (BBD) / Osteogenesis Imperfecta (OI)
Alternative Names: Fragilitas Ossium; Vrolik Disease; Brittle Bone Dysplasia, Brittle Bone Disease
Disease Category: Brittle Bone Disorders
A group of rare, inherited disorders, caused by 19 gene loci, resulting in bone fragility, bone fractures and other problems with connective tissues. Types I through IV are caused by variant alleles in the two genes that encode the strands of type I collagen. Most other genes play a role in the transport and processing of type I collagen. Collagen is the most predominant protein in structural connective tissues, including bones. Symptoms include bone fragility, skeletal deformities, scoliosis, joint laxity, chronic pain, hearing loss, a bluish tint to the sclerae (whites of the eyes), dental problems, and respiratory problems.
Research groups studying this disease
Brittle Bone Disorders
7707: Use of clear aligners for the treatment of dental malocclusion in individuals with Osteogenesis Imperfecta
The purpose of this study is to determine if it is safe to use clear aligners in correcting the misalignment of teeth in people with Osteogenesis imperfecta (OI). OI can affect the shape of the face, mouth and overall quality of life. Misalignment of teeth may interfere with oral hygiene, gum health, jaw function, opening of the jaw, chewing, breathing, and speech. There is very little information on the appropriate treatment for teeth misalignment in OI. Clear aligners are transparent plastic trays that are designed to fit over the teeth. With each new tray, teeth are moved a little at a time until they reach the desired position.
To quantify the factors that contribute to restrictive physiology (cardiopulmonary insufficiency) in the OI population
The overall purpose of this study is to understand the mental health concerns, psychosocial functioning, and priority treatment needs of
individuals with OI.
To classify and describe rates of cesarean section, hemorrhage(bleeding), and fracture in
women with Osteogenesis Imperfecta (OI) in pregnancy.