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Musladin-Lueke syndrome (previously known as Chinese Beagle syndrome) is a hereditary disorder that affects beagles that manifests in extensive fibrosis of the skin and joints. It is named after beagle breeders Anton Musladin and Ada Leuke. It is caused by a number of recessive mutations affecting fibrillin-1, a major component of microfibrils. [1]
Conradi–Hünermann syndrome is a form of chondrodysplasia punctata, a group of rare genetic disorders of skeletal development involving abnormal accumulations of calcium salts within the growing ends of long bones. Conradi–Hünermann syndrome is commonly associated with mild to moderate growth deficiency, disproportionate shortening of long ...
As hypermobility syndrome can be easily mistaken for being double-jointed or categorised as nothing more than perhaps an achy body from lack of exercise, medical professionals may diagnose those affected incorrectly and not adequately investigate the symptoms. Due to these circumstances many affected individuals can live not knowing they have it.
Bardet–Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The most common clinical features are rod–cone dystrophy, with childhood-onset night-blindness followed by increasing visual loss; postaxial polydactyly; truncal obesity that manifests during infancy and remains problematic ...
Yao syndrome (YAOS), formerly called NOD2-associated autoinflammatory disease, [1] is an autoinflammatory syndrome involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system.
Morgellons (/ m ɔːr ˈ ɡ ɛ l ə n z /) is the informal name of a self-diagnosed, scientifically unsubstantiated skin condition in which individuals have sores that they believe contain fibrous material.
Chinese restaurant syndrome is still listed in the dictionary; Merriam-Webster.com recently tacked on an addendum noting the pejorative nature of the term.
Myelopathy describes any neurologic deficit related to the spinal cord. [1] The most common form of myelopathy in humans, cervical spondylotic myelopathy (CSM), [2] [3] also called degenerative cervical myelopathy, [4] results from narrowing of the spinal canal (spinal stenosis) ultimately causing compression of the spinal cord. [5]