Genetics of Rubinstein-Taybi Syndrome Differential Diagnoses

Updated: Feb 10, 2023
  • Author: Keith K Vaux, MD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Diagnostic Considerations

Syndromes with broad thumbs and/or toes, including the following:

  • Floating-Harbor syndrome

  • FGFR-related craniosynostosis syndromes - Pfeiffer and Saethre-Chotzen syndromes; craniosynostosis is a major feature in both