Angelman Syndrome

A Syndrome characterized by multiple abnormalities, Mental Retardation, and Movement Disorders. Present usually are Skull and other abnormalities, frequent Infantile Spasms (Spasms, Infantile); easily provoked and prolonged paroxysms of Laughter (hence "happy"); jerky puppetlike Movements (hence "puppet"); continuous tongue protrusion; motor retardation; Ataxia; Muscle Hypotonia; and a peculiar Facies. It is associated with maternal deletions of Chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)