Rubinstein-Taybi syndrome


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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.

CREBBP

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.

Rubinstein,

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

Taybi,

Hooshang, U.S. pediatrician and radiologist, 1919–.
Rubinstein-Taybi syndrome - see under Rubinstein
Taybi syndrome
References in periodicals archive ?
Papadia et al., "Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300," Journal of Medical Genetics, vol.
Rubinstein et al., "Rubinstein-Taybi syndrome medical guidelines," American Journal of Medical Genetics, vol.
Pezzani et al., "Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management," Italian Journal of Pediatrics, vol.
Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome. Am J Med Genet A.
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature.
Congenital glaucoma associated with Rubinstein-Taybi syndrome. Acta Ophthalmol Scand.
Goniodysgenesis associated with Rubinstein-Taybi syndrome. Klin Oczna.
She had been desperately ill since being born five weeks prematurely and needed surgery to correct a heart defect caused by a rare genetic condition called Rubinstein-Taybi syndrome. Sarah still finds this painful time very difficult to discuss, but does say that the arrival of Nell has helped the couple open a 'new chapter' in their lives.
(1,2) According to the literature, it has also been associated with some systemic conditions such as Mohr syndrome (Orofacial-digital talon cusp) (9), Sturge-weber syndrome (10), Rubinstein-Taybi syndrome (11), incontinentia pigmenti achromians and Ellis-Van creveld syndrome.
* The Web site for Rubinstein-Taybi Syndrome should be http://www.rubinsteintaybi.org.
Rubinstein-Taybi Syndrome (RTS Parent Group) 414 E.
Then he came back with his diagnosis: Rubinstein-Taybi Syndrome.