To date, various benign and malignant tumors affecting different organs (e.g. liver, nervous system, testicles/ovaries, skin, blood) have been described as part of Rubinstein-Taybi syndrome. However, the risk of malignant diseases is only moderate.
Generally, children with the syndrome are detected at birth or in infancy due to the striking shape of the face and the characteristic changes in the hands and feet. During infancy and early childhood, breathing difficulties, feeding problems, absence of weight gain, frequent infections, and severe constipation may occur.
The symptoms associated with Rubinstein-Taybi syndrome can affect different organ systems and regions, namely the following anomalies and changes: