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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]
In an interview with People magazine published Wednesday, Farrell discussed the foundation and life with his 20-year-old son James, who was diagnosed with Angelman syndrome as a child. Farrell ...
AS is a random, equal-opportunity syndrome that affects approximately 1 in 15,000 people, and presents itself primarily as extreme neurologic impairment. AS affects both sexes and all races equally.
"James' last 20, 30, 40, 10 years of James' life, he'll be somewhere where he feels like he belongs, where he feels like he's safe, and where he can garden, and watch movies, and swim in the pool ...
Then in 1889, in Java, Indonesia, in Asia, Eugène Dubois came to be in possession of a fossilised skull with a brain cavity seemingly too large to be that of an ape. He had discovered Java Man (Pithicantharus erectus), who had lived some 800,000 years ago. Duboir's find was rejected by the scientific community as was believed to be too ape ...
Malan syndrome is defined by initial overgrowth and mild-to-severe intellectual disability. Almost all individuals with Malan syndrome display above-average height, weight, and head circumference in early life, but only one-third of adults with Malan syndrome are >2 standard deviations above the mean.
Okamoto syndrome; Other names: Au–Kline syndrome (AKS), [1] neurodevelopmental disorder–craniofacial dysmorphism–cardiac defect–skeletal anomalies syndrome, [2] congenital hydronephrosis with cleft palate, characteristic facies, hypotonia and mental retardation [3] Boy with Okamoto syndrome, showing the characteristic facial features ...
Macroorchidism is a disorder found in males, specifically in children, where a subject has abnormally large testes.The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. [1]