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Proteus syndrome causes an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels. Proteus syndrome is a progressive condition wherein children are usually born without any obvious deformities.
Children with some overgrowth syndromes such as Klippel–Trénaunay syndrome can be readily detectable at birth. [3] In contrast, other overgrowth syndromes such as Proteus syndrome usually present in the postnatal period, characteristically between the second and third year of life. [ 2 ]
Proteus syndrome, a genetic disorder best known as the condition possibly experienced by Joseph Merrick, the so-called Elephant Man [citation needed] Other causes may include the following: Repeated streptococcal infection [2] Lymphadenectomy [2] Hereditary birth defects [2] Pretibial myxedema
CLOVES syndrome is closely linked to other overgrowth disorders like proteus syndrome, Klippel–Trénaunay syndrome, Sturge–Weber syndrome, and hemihypertrophy, to name a few. 'CLOVES' is an acronym for: [2] [3] C is for congenital. L is for lipomatous, which means pertaining to or resembling a benign tumor made up of mature fat cells. Most ...
The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz–Jeghers syndrome, juvenile polyposis and Cowden syndrome. Mutation of the PTEN gene underlies this syndrome, as well as Cowden syndrome, Proteus syndrome, and Proteus-like syndrome, these four syndromes are referred to as PTEN Hamartoma-Tumor ...
In 2006, some doctors diagnosed Sellars as having Proteus syndrome, a very rare condition thought to affect only 120 people worldwide, [1] but more recent diagnoses have focused on a PIK3CA gene mutation. Some reports still describe her condition as a rare form of Proteus syndrome, [2] but Sellars herself has disputed the diagnosis. [3]
Merrick died in the hospital on 11 April 1890. Although the official cause of his death was asphyxia, Treves, who performed the postmortem, concluded that Merrick had died of a dislocated neck. The exact cause of Merrick's deformities is unclear, but in 1986 it was conjectured that he had Proteus syndrome. In a 2003 study, DNA tests on his hair ...
Cat eye syndrome; Caudal regression syndrome; Sotos syndrome Cerebral Gigantism; CHARGE syndrome; Chromosome 16 abnormalities; Chromosome 18 abnormalities; Chromosome 20 abnormalities; Chromosome 22 abnormalities; Cleft lip/palate; Cleidocranial dysostosis; Club foot; Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome