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.

DysmorphicNeonate: An Approach to Diagnosis in The Current Era

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot

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

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

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

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

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

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