Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome is a rare genetic disorder characterized by short stature, moderate to severe intellectual disability, distinctive facial features and unusually broad, often angulated thumbs and big toes, first described by physicians Jack Rubinstein and Hooshang Taybi in 1963. The condition is most commonly caused by mutations affecting the CREBBP gene or, less frequently, the EP300 gene, both of which play important roles in regulating the activity of other genes during development, and the majority of cases arise from new mutations rather than being inherited from a parent. Characteristic facial features include down-slanting eyes, a beaked nose, a high arched palate and a small lower jaw, while affected individuals commonly also experience feeding difficulties in infancy, increased susceptibility to respiratory infections, eye abnormalities and a higher risk of certain benign and malignant tumors. Developmental delay and intellectual disability vary in severity but are present in most cases, along with behavioral characteristics that can include a short attention span and, in some individuals, features associated with autism spectrum conditions. Management is supportive and multidisciplinary, involving early intervention services, physical and occupational therapy, and monitoring for associated medical complications throughout life.