A congenital condition in which bones are brittle and break easily due to unusual bone formation.
Osteogenesis imperfecta is a genetic disorder characterized by bone fragility, which is caused by defective synthesis of Type I collagen. There are primarily four types of osteogenesis imperfecta that vary in their clinical presentation. The disorder’s clinical manifestations generally include bone fractures, short stature, blue sclerae, hyperextensible joints, dentinogenesis imperfecta, osteoporosis, and hearing loss. The severity of the disorder can range from perinatal death to mild cases that are difficult to diagnose.
Genetic disorder (autosomal dominant disorder) of connective tissue characterized by abnormally brittle bones that are fractured by the slightest trauma. The disease varies from extreme, in which the child is born with multiple fractures, is deformed, and usually dies shortly after birth, through milder forms that typically manifest themselves after the child begins to walk and may ameliorate after puberty. In addition to bones that fracture easily, symptoms include translucent skin, blue sclerae, a tendency to braise easily, and hyper-extensibility of the ligaments. There is no cure; treatment involves measures to minimize the likelihood of fractures, especially in young children.
Brittle-bone disease characterized by sustaining multiple fractures throughout life from minimal trauma.
A congenital disorder in which the bones are unusually brittle and fragile. No treatment is available, but the tendency to fracture sometimes diminishes at adolescence.
A hereditary disease due to an inherited abnormality of collagen. It is characterized by extreme fragility of the skeleton, resulting in fractures and deformities. It may be accompanied by blue sclera (the outermost, normally white coat of the eyeball), transparent teeth, hypermobility (excessive range of movement) of the joints, deafness, and dwarfism (shortness of stature). The exact cause is not known, although there is some evidence that it may be associated with collagen formation. Parents of affected children can obtain help and advice from the Brittle Bone Society.
An inherited disorder of the connective tissue marked by defective bone matrix, short stature, and abnormal bony fragility. Additional clinical findings are multiple fractures with minimal trauma, blue sclerae, early deafness, opalescent teeth, a tendency to capillary bleeding, translucent skin, and joint instability. Although the disease is heterogeneous, two different classifications of osteogenesis imperfecta are used for clinical distinction. Osteogenesis imperfecta congenita manifests in utero or at birth. Osteogenesis imperfecta tarda occurs later in childhood with delayed onset of fracturing and much milder manifestations. The healing of bone fractures progresses normally. Later in life, the tendency to fracture decreases and often disappears. The vast majority of cases are inherited as an autosomal dominant trait, although a small percentage of congenital cases are transmitted as an autosomal recessive. There is no known cure for osteogenesis imperfecta; therefore, treatment is supportive and palliative.
A genetic disorder that affects the proper development of connective tissues, resulting in the formation of brittle and fragile bones susceptible to fractures even from minor injuries or trauma.
A congenital disorder distinguished by bones that are abnormally fragile and notably prone to fractures.
This condition arises from a genetic flaw in the connective tissue, which constitutes the foundational substance of bones. Infants severely impacted by this condition are born with numerous fractures, a pliable skull, and typically do not survive. Other individuals with this condition experience frequent fractures throughout infancy and childhood, often occurring from regular handling and activities. This can pose a challenge in distinguishing the condition from instances of child abuse.
A prevalent indication of osteogenesis imperfecta is the abnormal thinness of the whites of the eyes, causing a blue appearance. Those affected might also experience hearing impairment due to otosclerosis. In instances of minimal severity, osteogenesis imperfecta might go unnoticed until adolescence or even later stages.
No targeted therapy is available for this ailment. Fractures are stabilized and typically heal rapidly, but they can lead to the shortening and distortion of limbs, leading to atypical and hindered growth. Skull fractures might result in brain injury or even mortality. Genetic counseling is an option for parents to assess the likelihood of the condition manifesting in subsequent offspring. In severe instances, prenatal diagnosis can be conducted through ultrasound scans.
A genetic disorder marked by an unusual brittleness of the bones, leading to spontaneous fractures. It is often accompanied by a distinctive bluish tint in the whites of the eyes and, at times, hearing impairment. These unfortunate individuals, typically by the time they start school, may have experienced numerous bone fractures, some of which may occur with very minor force. This condition is also known as osteopsathyrosis, Lobstein’s disease, or fragilitas ossium.