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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]
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 ...
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]
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.
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.
Frequency. 1 in 50,000 people [ 5] Treacher Collins syndrome ( TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. [ 5] The degree to which a person is affected, however, may vary from mild to severe. [ 5] Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. [ 5]
Williams syndrome ( WS ), also Williams–Beuren syndrome ( WBS ), is a genetic disorder that affects many parts of the body. [ 2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [ 2] Mild to moderate intellectual disability is observed in people with WS, with particular challenges with ...
Lissencephaly ( / ˌlɪs.ɛnˈsɛf.əl.i /, meaning 'smooth brain') [ 1] is a set of rare brain disorders whereby the whole or parts of the surface of the brain appear smooth. [ 2] It is caused by defective neuronal migration during the 12th to 24th weeks of gestation resulting in a lack of development of brain folds ( gyri) and grooves ( sulci ...