As with type 3 oi, your body produces enough collagen but the quality is poor. Doctors classify the different types of oi based on how severe the condition is. Bones may break even while the fetus is in the womb. Collagen is the major protein of the bodys connective tissue and can be likened to the framework around which a building is constructed.
List the types and clinical features of osteogenesis imperfecta oi, including the potential overlap with abuse. Mutations in the col1a1 and col1a2 genes, which encode the. Osteogenesis imperfecta oi is a genetic disorder of connective tissues caused by an abnormality in the synthesis or processing of type i collagen. Osteogenesis imperfecta types, causes and treatments.
Osteogenesis imperfecta brittle bone disease types niams. Type ii osteogenesis imperfecta is the most severe form of the disease. The disorder is currently classified into seven types based on differences in clinical presentation and bone architecture. Many patients with this type of the disorder use wheelchairs or other mobility aids. Osteogenesis imperfecta also known as brittle bone disease is a heterogeneous group of inherited bone dysplasias characterized by skeletal deformity and bone fragility. In addition to fractures broken bones, people with oi sometimes have muscle weakness, loose joints joint laxity, curvature of the spine scoliosis, brittle teeth. This type of collagen is the most abundant protein in bone, skin, and other connective tissues that provide structure and strength.
Type 4 oi is the most variable form of brittle bone disease because its symptoms range from mild to severe. The several forms of osteogenesis imperfecta oi have been classified, representing wide variation in appearance and severity, and clinical features vary widely not only between types but within types classification. Osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily. These genes provide instructions for making proteins that are used to assemble type i collagen.
Type ii is lethal in the perinatal period, usually because of respiratory failure resulting from. Distribution and other data of osteogenesis imperfecta patients in this study oi type male female total percentage of total exposure patientyears number of deaths ia 171 272 383 51. Definition osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. Osteogenesis imperfecta oi is an inherited connective tissue disorder with many phenotypic presentations. Distinguishing oi from child abuse requires a thorough assessment by a medical professional who is familiar with the.
Abstract osteogenesis imperfecta oi is a heritable disease of bone in. Osteogenesis imperfecta is a bone disorder characterized by increased bone fragility. These are the cartilageassociated protein crtap gene. Osteogenesis imperfecta oi is a highly variable heritable disease of bone characterized by recurring bone fractures. Osteogenesis imperfecta oi is the result of a mutation in one of the two genes that carry instructions for making type 1 collagen the major protein in bone and skin. Among these, oi type iv clearly represents a heterogeneous group of disorders. Types of osteogenesis imperfecta oi brittle bone disease. Craniofacial manifestations in osteogenesis imperfecta. Affected individuals have multiple fractures, develop limb. Osteogenesis imperfecta oi is a rare disorder of type 1 collagen with currently identified types attributable to inherited abnormalities in type 1 collagen amount, structure, or processing. Other types of osteogenesis imperfecta are type v and type vi which the gene causing them have not been identified, and the recessive forms of osteogenesis imperfecta which are type vii and type viii. People with oi also have weak muscles and bone deformities.
Osteogenesis imperfecta oi is a disease that causes your bones to break easily. Osteogenesis imperfecta radiology reference article. It affects about 10% of all persons with osteogenesis imperfecta. Here we describe 7 oi patients 3 girls, who would typically be classified as having oi type iv but who can be distinguished from other type iv. Osteogenesis imperfecta an overview sciencedirect topics. Subdivided into a no overt dentinogenesis imperfecta and b dentinogenesis imperfecta present. However, vertebral fractures are typical and can lead to mild scoliosis. Osteogenesis imperfecta can be caused by mutations in one of several genes. The disease is characterized by an increased susceptibility to bony fracture. Osteogenesis imperfecta oi is an inherited bone disease caused by qualitative or quantitative defects in type i collagen, major structural. The mutation in the genes, col1a1, col1a2, crtap, and p3h2 result in oi. Types of osteogenesis imperfecta oi include categories ranging from type i through type vi. Three degrees of deforming oi, types ii, iii, and iv, are associated with decreasing severity of growth retardation and limb deformity and all result from a.
The collagen prolyl 3hydroxylation complex opened the floodgate to understanding rare forms of osteogenesis imperfecta. Osteogenesis imperfecta oi is a group of inherited diseases responsible for varying degrees of skeletal fragility. Depending on the type, the inheritance of the disorder can be autosomal dominant. After completing this article, readers should be able to. Mortality in various types of osteogenesis imperfecta. Osteogenesis imperfecta type iii omim 259420 is a severe autosomal recessive disorder. Osteogenesis imperfecta oi, also called brittle bone disease, is a rare. Patients with oi type vi sustained more frequent fractures than patients with oi type iv. In most cases, the inheritance pattern is autosomal dominant and in some cases it could also be autosomal recessive. Children with osteogenesis imperfecta can have all types of fractures including but not limited to spiral, rib, incomplete and displaced. Symptoms may be mild or severe, depending on the type of oi you have.
The major cause of osteogenesis imperfecta is a mutation in the genes that produce collagen. It is the most common single gene defect causing bone disease. This disease causes bones to be very weak and break with little or no trauma. Use of assistive devices to independently perform activities of daily living is. Mutations in the col1a1 and col1a2 genes cause approximately 90 percent of all cases. Osteogenesis imperfecta is the result of a mutation in one of the two genes that carry instructions for making type 1 collagen. Brittle bone disease or osteogenesis imperfecta oi is characterized by a fragile skeleton. Patients with type 3 osteogenesis imperfecta are generally diagnosed at birth due to multiple fractures. Osteogenesis imperfecta type v is a moderate type of osteogenesis imperfecta oi.
This type affects about 20% of all persons with osteogenesis imperfecta. Other manifestations include blue sclerae, dentinogenesis imperfecta, short stature, as well as deafness. Osteogenesis imperfecta oi types i, ii, iii, iv, v and vi, are inherited in an autosomal dominant manner. Osteogenesis imperfecta type v genetic and rare diseases. Most cases of oi have symptoms that fall into one of these four classifications. Children and adults with milder osteogenesis imperfecta may have few obvious signs, while some patients may appear to have characteristics of several types.
Typical signs of oi are small stature, fragile bones, scoliosis, blue sclera and shields type i dentinogenesis imperfecta di. In order to understand oi, it is important to know the different types. Features of oi vary not only between types but within each type as well. The prevalence and incidence of the oi types are different from each other, with oi type i and oi type iv accounting for considerably more than. Osteogenesis imperfecta overview nih osteoporosis and. Minimal trauma is sufficient to cause fractures and bone deformities. At the 2009 meeting of the international nomenclature group for constitutional disorders ichg of the skeleton incds published as 2010 nosology, a decision was finally made to group the known oi syndromes into five groups, that is, preserving the primary four groups and adding oi type v. Osteogenesis imperfecta oi, also known as brittle bone disease, is a rare genetic disorder with the main characteristic being that the bones break very easily, usually for no apparent reason. Osteogenesis imperfecta oi is commonly subdivided into four clinical types. Osteogenesis imperfecta is a disorder of connective tissue characterized by thinwalled, extremely fractureprone bones deficient in osteoblasts boneforming cells, as well as by malformed teeth, blue sclerae, and progressive deafness. This type of collagen is the most abundant protein in bone, skin, and other connective tissues that provide structure and strength to the. Osteogenesis imperfecta type i includes patients with mild disease and absence of major bone deformities table 1.
Type i osteogenesis imperfecta is the result of a dominant gene. Osteogenesis imperfecta oi is a genetic disorder that affects the bones. Here we describe 7 oi patients 3 girls, who would typically be classified as having oi type iv but who can be distinguished from other type iv patients. Osteogenesis imperfecta oi is a genetic disorder that is char. Treatment of osteogenesis imperfecta by bisphosphonate therapy can improve bone mass in all types of the disorder, and while not being a cure for the disorder does improve the quality of life of the patient. To determine clinical characteristics in children with osteogenesis imperfecta oi regarding impairment range of joint motion and muscle strength and disability functional skills in relation to the different types of the disease, and to study the correlation between characteristics of impairment and disability. Osteogenesis imperfecta genetics home reference nih. Type i osteogenesis imperfecta people with type i oi have less collagen than normal. Whereas, osteogenesis imperfecta 01, also known as brittle bone disease, is a genetic disorder characterized by fragile bones that break easily. Many infants with type ii osteogenesis imperfecta do not survive. A classification system of different types of oi is commonly used to help describe how severely a person with oi is affected.
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