Osteogenesis imperfecta can be caused by mutations in one of several genes. Complications may include cervical artery dissection. When these genes dont work, it affects how you make. Osteogenesis imperfecta also known as brittle bone disease or oi is a genetic. People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. If the gene changes that causes oi are known in a family, then molecular genetic testing which can detect these changes can be used for prenatal diagnosis.
Anyone can be born with oi, but people who have family members that have it are more likely to get it. Symptoms there are reports of blue sclera whites of the eyes during infancy and childhood that may resemble osteogenesis imperfecta. Osteogenesis imperfecta oi is a genetic disorder that affects the bones. Osteogenesis imperfecta in children childrens hospital.
The condition presents complex challenges on anatomical, medical and sociopsychological levels. Sometimes the fractures happen for no known reason. The present nosology and classification is based on the publication in 1979 by sillence et al. This genetic defect in osteogenesis imperfect makes it impossible for the body to manufacture strong and sturdy bones. Diagnosis will be established by biochemical tests, bone survey to exclude secondary causes followed by dual energy absorbiometry scan to detect bone density of selected cases then confirm our diagnosis by detection of gene mutations of osteogenesis imperfecta during one and half year duration with starting zoledronic acid therapy during this. Osteogenesis imperfecta overview nih osteoporosis and. The disorder requires only a single mutation for expression and is therefore passed directly from parent to child. Frequent bone fractures are the most common sign of osteogenesis imperfecta. Mutations in the two genes coding for collagen type i, col1a1 and col1a2, are the most common cause of osteogenesis imperfecta. Diagnosis and treatment osteogenesis imperfecta is a heritable disorder characterized by extremely fragile bones, blue sclerae, dentinogenesis imperfecta. Diagnosis of osteogenesis imperfecta in children full. The literal meaning of osteogenesis imperfecta is imperfect bone formation. Doctors may use xrays, genetic testing or a family tree analysis to diagnose oi. Mutations in the col1a1 and col1a2 genes cause approximately 90 percent of all cases.
Osteogenesis imperfecta oi is a disease that causes your bones to break fracture easily. Osteogenesis imperfecta oi is the term used to describe a group of rare inherited skeletal disorders characterized by a greatly increased risk of fragility fractures 1. A person who has mild osteogenesis imperfecta symptoms might experience a. Collagen type i, fractures, osteogenesis imperfecta. One of the known causes in some cases is a defect in how the body produces collagen. A reliable diagnosis of the lethal perinatal type of osteogenesis imperfecta can be made by ultrasound examination during the second trimester, by identification of fractures of the long bones. Before an appropriate diagnosis is made this disease can be mistaken for child. This value set contains concepts that represent a diagnosis of osteogenesis imperfecta. This of course, all begins with the proper diagnosis. A family history may also help doctors think of oi as a diagnosis. Osteogenesis imperfecta oi is the collective term for a heterogeneous group of connective tissue syndromes characterized primarily by liability to fractures throughout life. Osteogenesis imperfecta is a serious lifelong condition that needs to be managed through an interdisciplinary medical approach to maximize a childs quality of life and ability to function.
Osteogenesis imperfecta oi is a group of genetic disorders that mainly affect the bones. Recently, the genetic heterogeneity in osteogenesis imperfecta oi. Osteogenesis imperfecta hereditary ocular diseases. Mutations in several genes can cause oi but the condition is most commonly caused by mutations of colia1 or col1a2 resulting in the production of collagen which is abnormal or present in reduced amounts. Four types of osteogenesis imperfecta were originally described by sillence in 1979 and are now used broadly as the sillence criteria. Bone fractures occur mostly in years before puberty and. Includes only relevant concepts associated with diagnosis codes for osteogenesis imperfecta disease classifications 14. People with oi also have weak muscles and bone deformities. Patients suffering from osteogenesis imperfecta can have hundreds of bone fractures in a given lifetime. These genes provide instructions for making proteins that are used to assemble type i collagen. Collagen is the major protein of the connective tissue. An osteogenesis imperfecta diagnosis is typically made based on a patients complete medical history, a physical exam, and certain tests such as biochemical collagen or molecular dna tests. This value set may use the quality data model qdm category related to diagnosis. Amongst the type i collagen gene mutations that can occur, missense base substitutions involving glycine codons in the exons.
After completing this article, readers should be able to. Osteogenesis imperfecta great ormond street hospital. Osteogenesis imperfecta oi is a genetic condition present from birth. The nosology and classification of genetic skeletal disorders provided similar categorization in the 2010.
The condition affects the bodys ability to produce collagen, a protein in the bodys connective tissue. Osteogenesis imperfecta oi, also known as brittle bone disease, is a phenotypically diverse disorder due to deficiencies in the synthesis of type i collagen. Osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. Indeed, the newer forms of osteogenesis imperfecta types v, vi and vii are not as sociated with type i collagen gene defects. Parents who have a family history of osteogenesis imperfecta oi may choose to have their child tested for oi before the child is born.
Clinical diagnosis, nomenclature and severity assessment. Diagnosis and treatment osteogenesis imperfecta is a heritable disorder characterized by extremely fragile bones. Osteogenesis imperfecta treatment is highly individualized, dictated by the type and severity of each case. Oi types iv are clinically diagnosed peri types ii, iii and sometimes iv and postnatally all types. Its primary feature is fractures usually caused by minimal impact. It also tells you about the highly specialised service for oi based at gosh. This disease causes bones to be very weak and break with little or no trauma. Brittle bone disease osteogenesis imperfecta shriners. Prenatal diagnosis of osteogenesis imperfecta berge. Osteogenesis imperfecta is a genetic disorder that is characterized by bones that break easily, often from little or no apparent cause. Oi is a disease characterized by brittle bones and frequent fractures with minimal trauma leading to skeletal deformities. Your symptoms may be mild or severe, depending on the type of oi you have.
Osteogenesis imperfecta is a heritable disorder characterized by extremely fragile bones, blue sclerae, dentinogenesis imperfecta, hearing loss, and scoliosis. Shriners hospitals for children closely evaluates each and every patient to formulate a treatment plan for their particular needs. Frequent bouts of pneumonia can result if the chest distortion is severe. List the types and clinical features of osteogenesis imperfecta oi, including the potential overlap with abuse. Osteogenesis imperfecta oi is a group of genetic disorders that mainly.
What are the symptoms of osteogenesis imperfecta oi. Orthopedic surgery resident, albany medical center, albany, ny. Though rare, it is the most common inherited disorder of. Early diagnosis is essential because regular screening for potential complications such as worsening osteoporosis, bone deformity, hearing loss and restrictive lung disease should be initiated. In this epidemiological and genetic study, 180 patients with oi were studied. The authors present a case of osteogenesis imperfecta, emphasizing the clinical and. For example, a person may have just a few or as many as several hundred fractures in a lifetime. Diagnosis of osteogenesis imperfecta in dogs xrays will be done and will show multiple bone fractures that have occurred recently, as well as fractures in the process of healing. Osteogenesis imperfecta from the national institutes of health. Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic and molecular heterogeneity. Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems with the teeth. Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that causes bones to break easily without cause. Oi can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. No commercially available diagnostic test is available due to a wide.
Depending on the severity of the skeletal disease, there may be deformity of the arms, legs and chest. Osteogenesis imperfecta oi is a genetic disorder in which bones fracture break easily. Osteogenesis imperfecta oi, also called brittle bone disease, is a rare. Children with this condition may also have more laxity, or looseness, in their ligaments. Osteogenesis imperfecta or brittle bone disease, a heritable disorder of. Multiple fractures are common, and in severe cases, can even occur before birth. It can be so mild that health care providers do not diagnose it in some people until they are adults. 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. Differential diagnosis of osteogenesis imperfecta in. Osteogenesis imperfecta genetics home reference nih.
Osteogenesis imperfecta oi is a disorder of bone fragility chiefly caused by mutations in the col1a1 and col1a2 genes that encode type i procollagen. Since the first scientific description of oi in 1788 peltier, 1981. In the absence of clinical evidence of oi, a diagnosis of ijo can be given. Osteogenesis imperfecta oi is an inherited connective tissue disorder with many phenotypic presentations. Osteogenesis imperfecta is inherited in an autosomal dominant or vertical pattern. Osteogenesis imperfecta brittle bone disease types niams. Prenatal and postnatal diagnosis of oi with clinical examples. Osteogenesis imperfecta oi is a rare inherited condition affecting 1. Oi has served as the paradigm for heritable diseases of connective tissue from which advances in molecular diagnosis, mode of inheritance, and new concepts of therapy have been developed.
Osteogenesis imperfecta oi, also known as brittlebone disease, is a genetic inherited disorder characterized by bones that break easily without a specific cause. This type of collagen is the most abundant protein in bone, skin, and other connective tissues that provide structure and strength. Indeed, the newer forms of osteogenesis imperfecta types v, vi and vii are not associated with type i collagen gene defects. Osteogenesis imperfecta oi or brittle bone disease is characterized by reduced skeletal mass and bone fragility. Osteogenesis imperfecta multisystemic and lifelong disease. People with oi might have bones that break easily, which is why the condition is commonly called brittle bone disease.
Many cases occur without a prior family history, however. Osteogenesis imperfecta an overview sciencedirect topics. Several types of osteogenesis imperfecta have been identified, with symptoms ranging from mild to severe. Three more classifications have subsequently been added. Find out diagnosis, treatments, and living with oi. Osteogenesis imperfecta osteeohjenuhsis impurfektuh happens because of a defect in the gene that makes the. Brittle bone disease osteogenesis imperfecta texas childrens. Recently, the genetic heterogeneity in osteogenesis imperfecta oi, proposed in 1979 by sillence et al. In 1979, sillence classified the condition into four types based on genetic and clinical criteria. Pdf recently, the genetic heterogeneity in osteogenesis imperfecta oi, proposed in 1979 by sillence et al. Ijo is typically discovered during evaluation of a chevrel g. Radiographs will also show a decrease in bone density.
Oi type iv is the most variable form of the condition with symptoms ranging from moderately severe to so mild that it may be difficult to make the diagnosis. 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. Baljet, 2002 the nomenclature and classification of oi has evolved substantially. However, it is often though not always possible to diagnose osteogenesis based solely on clinical features. This information sheet from great ormond street hospital gosh describes osteogenesis imperfecta oi, what causes it and how it can be managed. All types of oi have some degree of bone fragility and fracturing, and many have some degree of bone deformity. A classification system of different types of oi is commonly used to help describe how severely a person with oi is affected. Oi is caused by one of several genes that arent working properly. Doctors suspect the disorder because people have repeated fractures without trauma and other symptoms common to the disorder.