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.

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

Genes, Free Full-Text

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

Skeletal Dysplasias - Endotext - NCBI Bookshelf

Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases - Rimoldi - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library

Chromosome 16p13.3 Duplication Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Genes, Free Full-Text

Genes, Free Full-Text

GeneReviews® - NCBI Bookshelf

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

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

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