Rubinstein-Taybi Syndrome - GeneReviews® - NCBI Bookshelf
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.
Genes, Free Full-Text
genereviews.org - GeneReviews® - NCBI Bookshelf
Figure 2. [Broad terminal phalanges (A) and broad, radially deviated thumbs (B)]. - GeneReviews® - NCBI Bookshelf
Chromosome 16p13.3 Duplication Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Rubinstein-Taybi Syndrome - GeneReviews® - NCBI Bookshelf
Rubinstein-Taybi Syndrome
Genes, Free Full-Text
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests. - Abstract - Europe PMC
Frontiers Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies
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
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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