definition of osteogenesis imperfecta
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Osteogenesis imperfecta Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term osteogenesis imperfecta means imperfect bone formation.People with this condition have bones that break easily, often from mild trauma or with no apparent cause.ost cases of osteogenesis imperfecta have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Many people with type I or type IV osteogenesis imperfecta inherit a mutation from a parent who has the disorder.
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- amelogenesis imperfecta. A hereditary defect of the mineralization of tooth enamel which is unusually soft and is rapidly worn away. am·e·lo·gen·e·sis im·per·fec·ta. Group of hereditary ectodermal disorders in which tooth enamel is defective in structure or deficient in quantity.
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Parthenogenesis Parthenogenesis (/ˌpɑːrθᵻnoʊˈdʒɛnᵻsᵻs, -θᵻnə-/; from the Greek παρθένος parthenos, virgin, + γένεσις genesis, creation) is a natural form of asexual reproduction in which growth and development of embryos occur without fertilization. In animals, parthenogenesis means development of an embryo from an unfertilized egg cell.
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Osteogenesis imperfecta Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term osteogenesis imperfecta means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause.his type of collagen is the most abundant protein in bone, skin, and other connective tissues that provide structure and strength to the body. Most of the mutations that cause osteogenesis imperfecta type I occur in the COL1A1 gene.
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- Freebase(0.00 / 0 votes)Rate this definition: Oogenesis. Oogenesis, ovogenesis or oögenesis is the creation of an ovum. It is the female form of gametogenesis; the male equivalent is spermatogenesis. It involves the development of the various stages of the immature ovum. Oögenesis. ō-ō-jen′e-sis, n. the genesis and development of the ovum—also Oög′eny.—adj.
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- Osteopetrosis is a rare inherited disorder that is present at birth (congenital). Osteopetrosis is characterized by overly dense bones throughout the body. Symptoms include fractures, low blood cell production, and loss of cranial nerve function causing blindness, deafness, and/or facial nerve paralysis. Affected individuals may experience frequent infections of teeth and the bone in the jaw.
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osteogenesis osteogenesis. osteogenesis imperfec´ta (OI) any of several types of collagen disorders, of variable inheritance, due to defective biosynthesis of type I collagen and characterized by brittle, osteoporotic, easily fractured bones; other defects are blue sclerae, wormian bones, and dentinogenesis imperfecta.
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amelogenesis imperfecta hypomaturation type 2A1 amelogenesis imperfecta hypomaturation type 2A1. amelogenesis imperfecta hypomaturation type 2A1. An autosomal recessive defect of enamel formation (OMIM:204700), which affects the primary and secondary dentition. The teeth have a shiny, agar-like appearance, and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. Molecular pathology.
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What Is Osteogenesis Imperfecta? Fast Facts: An Easy-to-Read Series of Publications for the Public Osteogenesis imperfecta (OI) is a disease that causes weak bones that break easily. It is known as brittle bone disease. Sometimes the bones break for no known reason. OI can also cause many other problems such as weak muscles, brittle teeth, and hearing loss.About 20,000 to 50,000 people in the United States have OI.steogenesis imperfecta (OI) is a disease that causes weak bones that break easily. It is known as brittle bone disease. Sometimes the bones break for no known reason. OI can also cause many other problems such as weak muscles, brittle teeth, and hearing loss. About 20,000 to 50,000 people in the United States have OI.
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- Osteopetrosis is a disorder in which an imbalance in the formation and breakdown of bone causes bones to be overly dense, yet weak and prone to break easily.It is a congenital condition, which means people are born with it.Excessive bone density can interfere with vital tissues and structures, causing serious problems throughout the body. Compression of nerves in the skull, for example, can lead to problems such as vision loss, hearing loss, or paralysis of facial muscles.t is a congenital condition, which means people are born with it. Excessive bone density can interfere with vital tissues and structures, causing serious problems throughout the body. Compression of nerves in the skull, for example, can lead to problems such as vision loss, hearing loss, or paralysis of facial muscles.
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- Medical Definition of OSTEOGENESIS IMPERFECTA. : a hereditary disease caused by defective or deficient collagen production and marked by extreme brittleness of the long bones and a bluish color of the whites of the eyes—called also fragilitas ossium, osteopsathyrosis. a hereditary disease marked especially by extreme brittleness of bones and caused by defective or insufficient collagen. ADVERTISEMENT. New Latin, imperfect osteogenesis.
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MayoClinic Health Library Definition. Osteomalacia refers to a softening of your bones, often caused by a vitamin D deficiency. Soft bones are more likely to bow and fracture than are harder, healthy bones.Osteomalacia is not the same as osteoporosis, another bone disorder that also can lead to bone fractures.Osteomalacia results from a defect in the bone-building process, while osteoporosis develops due to a weakening of previously constructed bone.uscle weakness and achy bone pain are the major symptoms of osteomalacia. Treatment for osteomalacia involves replenishing low levels of vitamin D and calcium and treating any underlying disorders that may be causing the deficiencies.
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Hypochondrogenesis Hypochondrogenesis is a severe genetic disorder causing malformations of bone growth. The condition is characterized by a short body and limbs and abnormal bone formation in the spine and pelvis.
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Osteogenesis imperfecta Osteogenesis imperfecta: People with osteogenesis imperfecta (OI) have bones that fracture easily, low muscle mass, and joint and ligament laxity ... more about Osteogenesis imperfecta. Osteogenesis imperfecta: Weak bones (brittle bone disease) and loose joints. More detailed information about the symptoms, causes, and treatments of Osteogenesis imperfecta is available below. Symptoms of Osteogenesis imperfecta
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Osteoporosis What Is Osteoporosis? Osteoporosis is a disease characterized by low bone mass and loss of bone tissue that may lead to weak and fragile bones. If you have osteoporosis, you have an increased risk for fractured bones (broken bones), particularly in the hip, spine, and wrist.
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osteitis deformans Noun. 1. osteitis deformans-a disease of bone occurring in the middle aged and elderly; excessive bone destruction sometimes leading to bone pain and fractures and skeletal deformities. Paget's disease. osteitis-inflammation of a bone as a consequence of infection or trauma or degeneration. 1  Facebook.
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- Definition of osteogenesis imperfecta - an inherited disorder characterized by extreme fragility of the bones. Definition of osteogenesis imperfecta - an inherited disorder characterized by extreme fragility of the bones.
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MOLECULAR BASIS OF OSTEOGENESIS IMPERFECTA The classification that is used for osteogenesis imperfecta was put by Sillence in 1979 (9). It is based mainly on the clinical features and the mode of inheritance of the disease. It classifies the disease into four main types which are: OI type I, OI type II, OI type III and OI type IV2, (4, 8).
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Osteogenesis imperfecta Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. It results in bones that break easily. The severity may be mild to severe.
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Cause Type II Osteogenesis Imperfecta. Type II osteogenesis imperfecta is the most severe form of the disease. The collagen does not form properly. Bones may break even while the fetus is in the womb. Many infants with type II osteogenesis imperfecta do not survive.
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- Osteogenesis imperfecta Author: Doctor Guillaume Chevrel1 Creation Date: October 2002 Update: June 2004 Scientific Editor: Doctor Martine Le Merrer 1Service de rhumatologie et de pathologies osseuses, CHU Hôpital Edouard Herriot, 5 Place d'Arsonval, 69437 Lyon Cedex 3, France. Guillaume.CHEVREL@wanadoo.fr Abstract Keywords Disease name and synonyms
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- Diffuse idiopathic skeletal hyperostosis (DISH) is a disorder in which there is bone growth in the ligaments, particularly where they attach to the bones of the spine.
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osteitis deformans osteitis deformans - a disease of bone occurring in the middle aged and elderly; excessive bone destruction sometimes leading to bone pain and fractures and skeletal deformities. Paget's disease. osteitis - inflammation of a bone as a consequence of infection or trauma or degeneration.
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- Definition of OSTEOGENESIS IMPERFECTA. : a hereditary disease marked especially by extreme brittleness of bones and caused by defective or insufficient collagen. ADVERTISEMENT.New Latin, imperfect osteogenesis. a hereditary disease marked especially by extreme brittleness of bones and caused by defective or insufficient collagen. ADVERTISEMENT. New Latin, imperfect osteogenesis.
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Osteogenesis Imperfecta Get the NRC Widget. Also known as “brittle bone disease,” osteogenesis imperfecta (OI) is a genetic disorder that causes weak bones that break easily in addition to other symptoms.There are several forms of OI, and although there is no cure, the symptoms of OI can be managed with a healthy lifestyle, medication, or surgery.et the NRC Widget. Also known as “brittle bone disease,” osteogenesis imperfecta (OI) is a genetic disorder that causes weak bones that break easily in addition to other symptoms.