Spondylometaphyseal Dysplasia

	Spondylometaphyseal Dysplasia Spondyloepimetaphyseal dysplasia is a genetic condition affecting the bones. Types include: * Spondyloepimetaphyseal dysplasia, Strudwick type * Spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and, in some instances, problems with vision and hearing. The name ... * Spondyloepimetaphyseal dysplasia, Pakistani type References External links Congenital disorders Rare diseases {{musculoskeletal-disease-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Spondyloepimetaphyseal Dysplasia, Strudwick Type Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine (spondylo-) and two regions near the ends of bones (epiphyses and metaphyses). This type was named after the first reported patient with the disorder. Spondyloepimetaphyseal dysplasia, Strudwick type is a subtype of type II collagenopathies. The signs and symptoms of this condition at birth are very similar to those of spondyloepiphyseal dysplasia congenita, a related skeletal disorder. Beginning in childhood, the two conditions can be distinguished in X-ray images by changes in areas near the ends of bones (metaphyses). Presentation People with this condition are short-statured from birth, with a very short trunk and shortened limbs. Their hands and feet, however, are usually average-sized. Curvature of the spine (scoliosis and l ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	Spondyloepiphyseal Dysplasia Congenita Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and, in some instances, problems with vision and hearing. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of bones (epiphyses), and that it is present from birth (congenital). The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis. Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI. Presentation People with spondyloepiphyseal dysplasia are short-statured from birth, with a very short trunk and neck and shortened limbs. Their hands and feet, however, are usually average-sized. This type of dwarfism is characterized by a normal spinal column length relative to the femur bone. Adult height ranges from 0 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	Congenital Disorders A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many birth defects are believed to involve multiple factors. Birth defects may be visible at birth or diagn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]