Descrição
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.
Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein–Taybi syndrome - Wikipedia
JCM, Free Full-Text
Frontiers Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies
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
Approach to inherited hypertrichosis: A brief review - Indian Journal of Dermatology, Venereology and Leprology
Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests. - Abstract - Europe PMC
CREBBP Gene - GeneCards, CBP Protein
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
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