Rubinstein-Taybi syndrome associated with influence of teratogenic factors - diagnostic difficulties
Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder, occurring mostly sporadically and determined by mutations in the CREBBP gene. The predominant symptoms of RTS include the characteristic features of dysmorphic features of the skull, dysmorphia of the fingers and toes, especially the thumbs and toes, intellectual disability intellectual disability, and systemic disorders.




