Rubinstein-Taybi Syndrome

"Rubinstein-Taybi Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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).

Descriptor ID	D012415
MeSH Number(s)	C05.116.099.370.797 C05.660.207.850 C10.597.606.643.700 C16.131.077.804 C16.131.260.790 C16.131.621.207.850 C16.320.180.790
Concept/Terms	Rubinstein-Taybi Syndrome Rubinstein-Taybi Syndrome Rubinstein Taybi Syndrome Syndrome, Rubinstein-Taybi Rubinstein Syndrome Syndrome, Rubinstein Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation Broad Thumb-Hallux Syndrome Broad Thumb Hallux Syndrome Broad Thumb-Hallux Syndromes Syndrome, Broad Thumb-Hallux Syndromes, Broad Thumb-Hallux

Below are MeSH descriptors whose meaning is more general than "Rubinstein-Taybi Syndrome".

Diseases [C]
Musculoskeletal Diseases [C05]
Bone Diseases [C05.116]
Bone Diseases, Developmental [C05.116.099]
Dysostoses [C05.116.099.370]
Rubinstein-Taybi Syndrome [C05.116.099.370.797]
Musculoskeletal Abnormalities [C05.660]
Craniofacial Abnormalities [C05.660.207]
Rubinstein-Taybi Syndrome [C05.660.207.850]
Nervous System Diseases [C10]
Neurologic Manifestations [C10.597]
Neurobehavioral Manifestations [C10.597.606]
Intellectual Disability [C10.597.606.643]
Rubinstein-Taybi Syndrome [C10.597.606.643.700]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
Rubinstein-Taybi Syndrome [C16.131.077.804]
Chromosome Disorders [C16.131.260]
Rubinstein-Taybi Syndrome [C16.131.260.790]
Musculoskeletal Abnormalities [C16.131.621]
Craniofacial Abnormalities [C16.131.621.207]
Rubinstein-Taybi Syndrome [C16.131.621.207.850]
Genetic Diseases, Inborn [C16.320]
Chromosome Disorders [C16.320.180]
Rubinstein-Taybi Syndrome [C16.320.180.790]

Below are MeSH descriptors whose meaning is related to "Rubinstein-Taybi Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Rubinstein-Taybi Syndrome".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Rubinstein-Taybi Syndrome" by people in this website by year, and whether "Rubinstein-Taybi Syndrome" was a major or minor topic of these publications.

Bar chart showing 1 publications over 1 distinct years, with a maximum of 1 publications in 2020

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2020	1	0	1

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Uwineza, Annette

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