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Sanfilippo syndrome. 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).
Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin. [1] [2] It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance. [3] Kabuki syndrome affects roughly one in 32,000 ...
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in their development ...
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 ...
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.
Hip replacement is a surgical procedure performed in dogs and cats as a salvage procedure, to alleviate severe pain in the hip due to, for example, hip dysplasia or irreparable bone fracture. [1] [2] The procedure replaces the head of the femur and the acetabulum with prosthetic implants. [1] Because animals under about 40 pounds (18 kg) carry ...
Cornelia de Lange syndrome. Cornelia de Lange syndrome ( CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges.
Those affected have a nearly normal life expectancy. [6] AS affects 1 in 12,000 to 20,000 people. [6] Males and females are affected with equal frequency. [7] It is named after British pediatrician Harry Angelman, who first described the syndrome in 1965. [7] [9] An older term, happy puppet syndrome, is generally considered pejorative. [10]