Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome is a rare condition that affects many parts of the body. People with this condition often have unique facial features, a small head (microcephaly), and differences in the shape of their thumbs and big toes. They may also experience slower growth after birth and shorter overall stature. The syndrome is considered a malformation disorder because it causes changes in the body’s structure that are present from birth. It is also linked with intellectual disability and some behavioral characteristics. Research has helped to identify these consistent features, although the full causes of the syndrome are not completely understood.

Common symptoms and signs of Rubinstein-Taybi syndrome include congenital anomalies such as microcephaly, distinct facial characteristics, broad thumbs and big toes, and postnatal growth retardation. People with this condition may also have short stature and may experience intellectual disability as well as other behavioral characteristics.

Information about causes is currently limited for this condition.

Information about treatment options and management approaches is currently limited for this condition.

Information about prognosis and quality of life considerations is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.