Rubinstein-Taybi syndrome: a rare case report of a female child emphasizing physiotherapy on gross motor function

Pan Afr Med J. 2021 Oct 8:40:85. doi: 10.11604/pamj.2021.40.85.31240. eCollection 2021.


Rubinstein-Taybi syndrome (RSTS) is a chromosomal segment 16p13.3 microdeletion syndrome and is characterized by CREBBP gene mutations, delay in the development of height and weight, distinctive facial features, broad and sometimes angulated thumbs and halluces, short stature, and intellectual impairment that is mild to extreme. Current literature emphasizes mainly medical, dental, and psychiatric issues in RSTS and there is no retrievable literature on physiotherapy and its role in improving motor function in RSTS. The present case report is of a baby girl of 17 months suspected case of RSTS, presented with all the features of RSTS. Delay in the acquisition of skills and development were the chief complaints. We designed a 12-week treatment regimen that concentrated mainly on transitions using principles of neurodevelopmental therapy. Gross motor function measure (GMFM 88) was taken pre- and post-treatment which showed tremendous improvement. This is the first study on the role of physiotherapy in RSTS.

Keywords: Rubinstein-Taybi syndrome; case report; delayed development; physical activities; physiotherapy.

Publication types

  • Case Reports

MeSH terms

  • CREB-Binding Protein / genetics
  • Dwarfism*
  • Female
  • Humans
  • Infant
  • Mutation
  • Phenotype
  • Physical Therapy Modalities
  • Rubinstein-Taybi Syndrome* / diagnosis
  • Rubinstein-Taybi Syndrome* / genetics


  • CREB-Binding Protein