MeSH Browser

MeSH Heading: Angelman Syndrome
Tree Number(s): C10.228.662.075; C16.131.077.095; C16.131.260.040; C16.320.180.040; C16.320.447.250
Unique ID: D017204
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D017204
Scope Note: 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)
Entry Term(s): Happy Puppet Syndrome; Puppet Children
Previous Indexing: Ataxia (1972-1992); Mental Disorders (1967-1992); Movement Disorders (1967-1992)
See Also: Intellectual Disability
Public MeSH Note: 93
History Note: 93
Date Established: 1993/01/01
Date of Entry: 1992/05/07
Revision Date: 2023/04/14

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Concept UI: M0026107
Scope Note: 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)
Terms: Angelman Syndrome Preferred Term
Term UI T051294
Date01/01/1999
LexicalTag EPO
ThesaurusID; Happy Puppet Syndrome
Term UI T051293
Date11/14/1991
LexicalTag NON
ThesaurusID NLM (1993); Puppet Children
Term UI T051292
Date11/14/1991
LexicalTag NON
ThesaurusID NLM (1993)

Angelman Syndrome MeSH Descriptor Data 2024