NLM Logo

Rubinstein-Taybi Syndrome MeSH Descriptor Data 2023


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
Rubinstein-Taybi Syndrome Preferred
page delivered in 0.196s