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.

Figure 2. [Broad terminal phalanges (A) and broad, radially deviated thumbs (B)]. - GeneReviews® - NCBI Bookshelf

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

A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot

1q21 1 Deletion Syndrome: Most Up-to-Date Encyclopedia, News & Reviews

Figure 1. [Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)]. - GeneReviews® - NCBI Bookshelf

Rubinstein-Taybi syndrome: MedlinePlus Genetics

Rubinstein-Taybi syndrome: MedlinePlus Genetics

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature