Angelman Syndrome

**Definition:** A syndrome characterized by multiple abnormalities, INTELLECTUAL DISABILITY, 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)

**Tree numbers:** - C10.228.662.075 - C16.131.077.095 - C16.131.260.040 - C16.320.180.040 - C16.320.447.250

**Synonyms:** - Happy Puppet Syndrome - Puppet Children