MeSH Browser

MeSH Heading: Rubinstein-Taybi Syndrome
Tree Number(s): C05.116.099.370.797; C05.660.207.850; C10.597.606.360.700; C16.131.077.804; C16.131.260.790; C16.131.621.207.850; C16.320.180.790
Unique ID: D012415
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D012415
Scope Note: A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
Entry Term(s): Broad Thumb-Hallux Syndrome; Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation; Rubinstein Syndrome
NLM Classification #: QS 675
Previous Indexing: Abnormalities, Multiple (1968-1971); Mental Retardation (1966-1971)
See Also: Intellectual Disability
Public MeSH Note: 91; was see under ABNORMALITIES, MULTIPLE 1972-90
History Note: 91(72); was see under ABNORMALITIES, MULTIPLE 1972-90
Date Established: 1991/01/01
Date of Entry: 1999/01/01
Revision Date: 2018/06/30

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: M0019298
Scope Note: A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
Terms: Rubinstein-Taybi Syndrome Preferred Term
Term UI T036917
Date01/01/1999
LexicalTag EPO
ThesaurusID; Rubinstein Syndrome
Term UI T369673
Date11/03/1999
LexicalTag EPO
ThesaurusID; Broad Thumb-Hallux Syndrome
Term UI T369674
Date11/03/1999
LexicalTag NON
ThesaurusID; Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation
Term UI T782108
Date12/13/2010
LexicalTag NON
ThesaurusID

Rubinstein-Taybi Syndrome MeSH Descriptor Data 2024