Rubinstein-Taybi Syndrome - GeneReviews® - NCBI Bookshelf

Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. Characteristic craniofacial features include downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-related RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.

A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part

Kabuki Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author

Microdeletion and Microduplication Syndromes - Anja Weise, Kristin Mrasek, Elisabeth Klein, Milene Mulatinho, Juan C. Llerena, David Hardekopf, Sona Pekova, Samarth Bhatt, Nadezda Kosyakova, Thomas Liehr, 2012

GeneReviews® - NCBI Bookshelf

Approach to inherited hypertrichosis: A brief review - Indian Journal of Dermatology, Venereology and Leprology

GeneReviews® - NCBI Bookshelf

Frontiers Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

Rubinstein-Taybi Syndrome - GeneReviews® - NCBI Bookshelf

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

genereviews.org - GeneReviews® - NCBI Bookshelf

Medical Publications – Bohring-Opitz Syndrome