Individuals with SATB2-associated syndrome (2q33.1) are generally very kind and happy, with the most beautiful smiles you may have ever seen. However, this syndrome significantly affects all areas of development, including speech (absent speech in most or significantly delayed/affected speech), cognition (intellectual disability), fine motor skills, and gross motor skills. Individuals with SATB2-associated syndrome have palatal abnormalities, including cleft palate and high arched palate, as well as dental issues, including large teeth. They also suffer from a number of other medical issues, and as the children get older, significant behavioral issues develop.
Our group is fortunate to work closely with Dr. Yuri Zarate, of the Arkansas Children’s Hospital. Dr. Zarate (better known to our group as Dr. Z) is the leading expert in the treatment of individuals with SATB2-associated syndrome (SAS) and SAS-related research. He has initiated a project to collect clinical information on patients with SAS to increase our knowledge of this condition. Parents and clinicians are encouraged to contact Dr. Zarate for further information about enrolling in the SATB2-associated syndrome clinical registry. Currently, over 200 families are enrolled.