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Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare genetic disease that mainly affects the brain and spinal cord. It is caused by a problem with how the body breaks down certain large sugar molecules called glycosaminoglycans (also known as GAGs or mucopolysaccharides). In children with this condition, these ...
Frequency. 1 in 5,000 [ 1] Ehlers–Danlos syndromes ( EDS) are a group of 13 genetic connective-tissue disorders. [ 7] Symptoms often include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. [ 1] These may be noticed at birth or in early childhood. [ 3]
In dogs, hip dysplasia is an abnormal formation of the hip socket that, in its more severe form, can eventually cause lameness and arthritis of the joints. It is a genetic (polygenic) trait that is affected by environmental factors. It is common in many dog breeds, particularly the larger breeds, and is the most common single cause of arthritis ...
Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
The first documented case was in 1916 by Winfried Robert Clemens Brachmann (1888-1969), a German physician who wrote about the distinct features of the disease from his 19-day-old patient. [14] Walther Johann Brachmann was qualified in medicine in 1913 and obtained an appointment as a clinical assistant at the children's hospital in Güttingen ...
D019644. MedlinePlus. 002975. [ edit on Wikidata] Hip replacement is a surgical procedure in which the hip joint is replaced by a prosthetic implant, that is, a hip prosthesis. [ 1] Hip replacement surgery can be performed as a total replacement or a hemi/semi (half) replacement.
Up to 1/8,333 [ 2] Facioscapulohumeral muscular dystrophy ( FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, those that position the scapula, and those overlying the humerus bone of the upper ...
Cockayne syndrome ( CS ), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight ( photosensitivity ), eye disorders and premature aging. [ 1][ 2][ 3] Failure to thrive and neurological ...