Rubinstein-Taybi syndrome

(redirected from Rubenstein-Taybi syndrome)

Ru·bin·stein-Tay·bi syn·drome

(rū'bĭn-stīn tā'bē),
mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set ears, high arched palate, and cardiac anomaly; a submicroscopic chromosomal defect may be causative, but evidence suggests that this syndrome is due to mutation in the gene encoding transcriptional coactivator CREB-binding protein on chromosome 16p.
Farlex Partner Medical Dictionary © Farlex 2012


A gene on chromosome 16p13.3 that encodes a ubiquitously expressed protein involved in the transcriptional coactivation of various transcription factors. CREBBP acts as a scaffold to stabilise additional protein interactions with the transcription complex; it has intrinsic histone acetyltransferase activity, and acetylates both histone and non-histone proteins.

Molecular pathology
CREBBP mutations cause Rubinstein-Taybi syndrome (RTS); chromosomal translocations of CREBBP are associated with acute myeloid leukaemia.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.


Jack Herbert, U.S. child psychiatrist and pediatrician, 1925–.
Rubinstein-Taybi syndrome - mental retardation, facial deformities, and cardiac anomaly.


Hooshang, U.S. pediatrician and radiologist, 1919–.
Rubinstein-Taybi syndrome - see under Rubinstein
Taybi syndrome
Medical Eponyms © Farlex 2012
References in periodicals archive ?
The risk of rhabdomyosarcoma is higher in children with Li-Fraumeni syndrome, neurofibromastosis type 1, Beckwith-Wiedemann syndrome, nevoid basal cell carcinoma (Gorlin) syndrome, and Rubenstein-Taybi syndrome.