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In normal individuals, these symptoms disappear quickly, but in sufferers of HNPP even a short period of pressure can cause the symptoms to occur. Palsies can last from minutes or days to weeks or even months. [4] [1] HNPP is caused by a mutation in the gene PMP22, which makes peripheral myelin protein 22.
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The diagnosis of NAIT is usually made after an incidental finding of a low platelet count on a blood test or because of bleeding complications ranging from bruising or petechiae to intracranial hemorrhage in the fetus or newborn. [6] Frequently, the reduction in platelet count is mild and the affected neonates remain largely asymptomatic. [6]
Overall prognosis is good in most patients, with one study showing recovery occurring in 94% and 89% of children and adults, respectively (some having needed treatment). [27] In children under ten, the condition recurs in about a third of all cases, usually within the four months of the initial attack. [6]
Because of the little awareness on AMPS, the condition is frequently not diagnosed when symptoms first present, often with multiple diagnoses of physical conditions before the diagnosis of AMPS. [3] [12] The condition is diagnosed through observation of various patient traits. A full overview of the patients medical history, as well as out rule ...
Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with fewer than 50 cases described in the literature. [1] It is usually diagnosed in early childhood and is characterized by the triad of proportionate short stature with delayed bone age, characteristic facial appearance, and delayed speech development.
Other symptoms can include hair loss, dental abnormalities, eye abnormalities that can lead to vision loss and lined or pitted fingernails and toenails. Associated problems can include delayed development, intellectual disability, seizures and other neurological problems.
Waardenburg syndrome has multiple different types with some variations in symptoms, and symptoms can vary among those with the same type. The two features consistent across all types of Waardenburg syndrome are some degree of congenital sensorineural hearing loss and some degree of pigmentation deficiencies, most consistently in the eyes.