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Descriptor English: Rubinstein-Taybi Syndrome
Descriptor Spanish: Síndrome de Rubinstein-Taybi
Descriptor Portuguese: Síndrome de Rubinstein-Taybi
Descriptor French: Syndrome de Rubinstein-Taybi
Entry term(s): Broad Thumb Hallux Syndrome
Broad Thumb-Hallux Syndrome
Broad Thumb-Hallux Syndromes
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation
Rubinstein Syndrome
Rubinstein Taybi Syndrome
Syndrome, Broad Thumb-Hallux
Syndrome, Rubinstein
Syndrome, Rubinstein-Taybi
Syndromes, Broad Thumb-Hallux
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
RDF Unique Identifier: https://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).
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Abnormalities, Multiple (1968-1971)
Mental Retardation (1966-1971)
Public MeSH Note: 91; was see under ABNORMALITIES, MULTIPLE 1972-90
History Note: 91(72); was see under ABNORMALITIES, MULTIPLE 1972-90
Related: Intellectual Disability MeSH
DeCS ID: 12788
Unique ID: D012415
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1991/01/01
Date of Entry: 1999/01/01
Revision Date: 2018/06/30
Rubinstein-Taybi Syndrome - Preferred
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).
Preferred term Rubinstein-Taybi Syndrome
Entry term(s) Broad Thumb Hallux Syndrome
Broad Thumb-Hallux Syndrome
Broad Thumb-Hallux Syndromes
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation
Rubinstein Syndrome
Rubinstein Taybi Syndrome
Syndrome, Broad Thumb-Hallux
Syndrome, Rubinstein
Syndrome, Rubinstein-Taybi
Syndromes, Broad Thumb-Hallux



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