Targeted gene(s)/phenotype under study

Gene: KBG syndrome


KBG is a pretty novel disease entity characterized by developmental delay, short stature, dysmorphic facial features, and skeletal anomalies. Literature data about the evolution of the clinical phenotype over time are limited. We have collected several patients with KBG syndrome and followed them over time.  The aim of this study is to collect clinical and molecular data of patients with KBG syndrome in order to better define the main clinical features from childhood into adulthood and to establish a genotype-phenotype correlation.

Coordinating clinicians /researchers

  • Prof.ssa  Alessandra Renieri, MD, Ph.D
  • Dott. ssa Anna Maria Pinto,MD,Ph.D



UOC Genetica Medica,
Policlinico Le Scotte
53100 Siena – Italy

Specific requirements beyond clinical data and genotype data sharing

  • Re-analysis of DNA samples: No
  • Resampling of patients: No
  • Linked to a translational/basic research project? No