Diseases

Rubinstein-Taybi Syndrome

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).

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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).

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

See Also

MeSH Record

Synonyms

10 entry terms
  • Broad Thumb-Hallux Syndrome
  • Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation
  • Rubinstein Syndrome
  • Broad Thumb Hallux Syndrome
  • Broad Thumb-Hallux Syndromes
  • Rubinstein Taybi Syndrome
  • Syndrome, Broad Thumb-Hallux
  • Syndrome, Rubinstein
  • Syndrome, Rubinstein-Taybi
  • Syndromes, Broad Thumb-Hallux

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

91(72); was see under ABNORMALITIES, MULTIPLE 1972-90

MeSH Record

Previous Indexing

  • Abnormalities, Multiple (1968-1971)
  • Mental Retardation (1966-1971)

MeSH Hierarchy

Tree Numbers

  1. C05w.116w.099.370w.797w
  2. C05w.660w.207w.850w
  3. C10w.597.606.360w.700w
  4. C16w.131w.077w.804w
  5. C16w.131w.260w.790w
  6. C16w.131w.621w.207w.850w
  7. C16w.320w.180w.790w

MeSH Record

NLM Classification

QS 675

AMA Style

References

  1. National Library of Medicine. Rubinstein-Taybi Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D012415. http://id.nlm.nih.gov/mesh/2026/D012415
  2. Rubinstein-Taybi Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome
  3. Rubinstein-Taybi Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q666980