Rubinstein-Taybi syndrome: clinical features, genetic basis
Por um escritor misterioso
Last updated 16 julho 2024
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Background Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. However, no standard diagnostic criteria are available for RSTS. In this review, we summarized the clinical features and genetic basis of RSTS and highlighted areas for future studies on an appropriate diagnostic protocol and follow-up care for RSTS. Discussion RSTS is primarily characterized by delayed growth in height and weight, microcephaly, dysmorphic facial features, and broad thumbs and big toe. Over 90% RSTS individuals with disabilities survive to adulthood, but healthcare for these patients is particularly complex, time-consuming, and costly. In addition, no standard diagnostic criteria and follow-up care guidelines are available for RSTS. It has been shown that mutations in the genes encoding the cyclic-AMP-regulated enhancer binding protein (CREBBP) and the E1A-binding protein p300 (EP300) contributed to the development of RSTS. Therefore, genetic tests are useful for the diagnosis of RSTS, although most RSTS cases are currently diagnosed based on clinical features. Summary The clinical features of RSTS have been extensively studied, which significantly contributes to the diagnosis of this extremely rare syndrome. However, the pathogenesis and genotype-phenotype associations of RSTS are largely unknown. Therefore, multicenter studies and international cooperation are highlighted for better understanding of this disease, establishing standard diagnostic criteria, and providing professional management and follow-up care of RSTS.
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PDF) Nephrotic syndrome in a case of Rubinstein Taybi syndrome: a
![Rubinstein-Taybi syndrome: clinical features, genetic basis](https://img.yumpu.com/48867686/1/500x640/representative-epigenetic-diseases-rubinstein-taybi-syndrome-.jpg)
Representative Epigenetic diseases: Rubinstein-Taybi Syndrome
![Rubinstein-Taybi syndrome: clinical features, genetic basis](https://www.researchgate.net/publication/45695194/figure/fig2/AS:267543680122945@1440798792593/Clinical-photos-of-the-patients-a-Case-1-Dysmorphic-facial-features-include.png)
Clinical photos of the patients. (a) Case 1: Dysmorphic facial
![Rubinstein-Taybi syndrome: clinical features, genetic basis](https://thejns.org/caselessons/view/journals/j-neurosurg-case-lessons/1/11/full-CASE20110f1.jpg)
Rubinstein-Taybi syndrome with scoliosis treated with single-stage
![Rubinstein-Taybi syndrome: clinical features, genetic basis](https://www.verywellhealth.com/thmb/vWXSOSsyAXG6B_DonL-WCiMXDLo=/1500x0/filters:no_upscale():max_bytes(150000):strip_icc()/pediatrician-487474340-3f639b1d87444d45b10ba75b77446051.jpg)
Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment
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Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
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Rubinstein–Taybi syndrome: clinical and molecular overview
![Rubinstein-Taybi syndrome: clinical features, genetic basis](https://bjo.bmj.com/content/bjophthalmol/84/10/1177/F1.large.jpg)
Ocular features in Rubinstein-Taybi syndrome: investigation of 24
![Rubinstein-Taybi syndrome: clinical features, genetic basis](https://media.springernature.com/lw685/springer-static/image/art%3A10.1007%2Fs40477-020-00491-6/MediaObjects/40477_2020_491_Fig1_HTML.jpg)
Ultrasound 2-D and 3-D diagnosis of Rubinstein–Taybi syndrome in a
![Rubinstein-Taybi syndrome: clinical features, genetic basis](https://ars.els-cdn.com/content/image/1-s2.0-S1110863012000316-gr6.jpg)
Facial dysmorphism, skeletal anomalies, congenital glucoma
![Rubinstein-Taybi syndrome: clinical features, genetic basis](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41598-021-95133-0/MediaObjects/41598_2021_95133_Fig1_HTML.jpg)
Identification of de novo EP300 and PLAU variants in a patient
![Rubinstein-Taybi syndrome: clinical features, genetic basis](https://www.frontiersin.org/files/Articles/848879/fgene-13-848879-HTML-r1/image_m/fgene-13-848879-g005.jpg)
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
![Rubinstein-Taybi syndrome: clinical features, genetic basis](https://europepmc.org/articles/PMC4918723/bin/10-1055-s-0035-1564571-i1508-2.jpg)
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
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