Thumb and facial abnormalities, microcephaly and cardiac defects

G. Cocchi, M. Capelli, L. Garavelli, S. Gualdi, E. Mazzoni

Research output: Contribution to journalArticlepeer-review


The Rubinstein-Taybi Syndrome (RTS) is an autosomic dominant disease (MIM 180849), associated with microdeletion 16p13.3 in about 20% of cases (Petrij et al., 2000); it is characterized by facial, skeletal, renal and cerebral abnormalities, cardiac defects, moderate/severe mental retardation, immunodeficiency, feeding difficulties and growth delay (Rubinstein and Taybi, 1963). The differential diagnosis is usually with Floating-Harbor syndrome and Keipert-Danks syndrome.

Original languageEnglish
Pages (from-to)254-256
Number of pages3
JournalItalian Journal of Pediatrics
Issue number4
Publication statusPublished - Aug 2003


  • Broad and flat thumbs and toes
  • Cardiac defects
  • Facial abnormalities
  • Mental retardation
  • Microdeletion

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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