Rubinstein-Taybi syndrome

Clinical features, genetic basis, diagnosis, and management

Donatella Milani, Francesca Maria Paola Manzoni, Lidia Pezzani, Paola Ajmone, Cristina Gervasini, Francesca Menni, Susanna Esposito

Research output: Contribution to journalReview article

28 Citations (Scopus)

Abstract

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.

Original languageEnglish
Article number4
JournalItalian Journal of Pediatrics
Volume41
Issue number1
DOIs
Publication statusPublished - 2015

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Rubinstein-Taybi Syndrome
Aftercare
Microcephaly
Thumb
Carrier Proteins
Hallux
International Cooperation
Inborn Genetic Diseases

Keywords

  • CREBBP
  • Intellectual disability
  • Plurimalformative syndrome
  • Rubinstein syndrome
  • Rubinstein-Taybi syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Rubinstein-Taybi syndrome : Clinical features, genetic basis, diagnosis, and management. / Milani, Donatella; Manzoni, Francesca Maria Paola; Pezzani, Lidia; Ajmone, Paola; Gervasini, Cristina; Menni, Francesca; Esposito, Susanna.

In: Italian Journal of Pediatrics, Vol. 41, No. 1, 4, 2015.

Research output: Contribution to journalReview article

Milani, Donatella ; Manzoni, Francesca Maria Paola ; Pezzani, Lidia ; Ajmone, Paola ; Gervasini, Cristina ; Menni, Francesca ; Esposito, Susanna. / Rubinstein-Taybi syndrome : Clinical features, genetic basis, diagnosis, and management. In: Italian Journal of Pediatrics. 2015 ; Vol. 41, No. 1.
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abstract = "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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