In some individuals, KFS can be associated with a variety of additional symptoms and physical abnormalities. The disorder is present at birth (congenital), but mild cases may go undiagnosed until later during life when symptoms worsen or first become apparent.
Some affected individuals may also have an abnormally short neck, restricted movement of the head and neck, and a low hairline at the back of the head (posterior hairline). Klippel-Feil syndrome (KFS) is a rare skeletal disorder primarily characterized by abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (cervical vertebrae). Some children may experience backaches or lower back pain. Affected children may have uneven shoulders, one shoulder blade that appears to be more pronounced or prominent than the other, and uneven hips. In other cases, the condition can develop as part of a large syndrome such as muscular dystrophy. In many cases, the exact cause of scoliosis is unknown (idiopathic). Scoliosis can be mild, but can worsen as an affected child grows. Scoliosis is a common condition in which the spine abnormally curves to the side instead of running straight up and down. Comparisons may be useful for a differential diagnosis: Symptoms of the following disorders can be similar to those of Sprengel deformity. In approximately 75% of cases, Sprengel deformity is associated with additional abnormalities, most commonly Klippel-Feil syndrome, but also scoliosis, spina bifida, hemivertebrae, rib segmentation abnormalities, clavicular abnormalities, and underdevelopment (hypoplasia) of neck or shoulder muscles. In severe cases, the neck may be abnormally short (brevicollis) and webbed. Some affected individuals have neck deformities as well, ranging from mild tilting (torticollis) to severe spine deformity. The main signs and symptoms of Sprengel deformity are limited or restricted movement of the arm and shoulder blade on the affected side as well as the cervical spine.
The reported range of displacement of the shoulder blade is 2-10 centimeters, or approximately a half an inch to 4 inches. Milder cases can go undiagnosed until adolescence. The degree of elevation and displacement in Sprengel deformity can vary greatly from one person to another and can range from very mild, in which the abnormality cannot be seen when wearing clothes, to severe cases in which the shoulder is noticeably elevated. Generally, these abnormalities tend to be painless. However, in some cases both shoulder blades can be affected. 5 Myths About Orphan Drugs and the Orphan Drug Act.Information on Clinical Trials and Research Studies.
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