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)

Year introduced: 1993

PubMed search builder options

Subheadings:

Restrict to MeSH Major Topic.

Do not include MeSH terms found below this term in the MeSH hierarchy.

Tree Number(s): C10.228.662.075, C16.131.077.095, C16.131.260.040, C16.320.180.040, C16.320.447.250

MeSH Unique ID: D017204

Entry Terms:

• Syndrome, Angelman
• Happy Puppet Syndrome
• Syndrome, Happy Puppet
• Puppet Children
• Children, Puppet

Previous Indexing:

• Ataxia (1972-1992)
• Mental Disorders (1967-1992)
• Movement Disorders (1967-1992)

See Also:

• Intellectual Disability

All MeSH Categories
Diseases Category
Nervous System Diseases
Central Nervous System Diseases
Movement Disorders
Angelman Syndrome

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Angelman Syndrome

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Chromosome Disorders
Angelman Syndrome

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Chromosome Disorders
Angelman Syndrome

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Imprinting Disorders
Angelman Syndrome