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.

CREBBP Gene - GeneCards, CBP Protein

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

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Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry

Quality of life of Brazilian families who have children with Rubinstein–Taybi syndrome: An exploratory cross‐sectional study - Vale - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library

The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature - Awan - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library

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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

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

CREBBP Gene - GeneCards, CBP Protein