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)

Also Known As:

Syndrome, Angelman; Syndrome, Happy Puppet; Children, Puppet; Happy Puppet Syndrome; Puppet Children

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Movement Disorders: 4634
    - Angelman Syndrome: 460
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Angelman Syndrome: 460
  - Chromosome Disorders: 136
    - Angelman Syndrome: 460
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Angelman Syndrome: 460
  - Imprinting Disorders: 60
    - Angelman Syndrome: 460

Happy puppet syndrome (formerly)

Disease Context: Research Results