Rubinstein-Taybi Syndrome

Rubinstein-Taybi syndrome is a rare genetic disease that is present from birth and influences the growth and development of different organs and systems.

Which specialists treat it? The pediatrician is usually the one who provides overall follow-up of the child's development, and the speech-language professional collaborates on communication when necessary.

Features that may be observed: Broad thumbs and big toes, distinctive facial features, height below average, and development that advances at its own pace, with possible learning difficulties.

When to evaluate it? If signs of development different from the usual are noticed during childhood, it is worth discussing it soon with the pediatrician, since timely support helps the well-being of the child and their family.