Clinical Characteristics

Core features of SATB2-associated syndrome (SAS) can be remember by the following acronym using the name of the SATB2 gene:

Severe speech anomalies. Language development is the main area of development affected and often with very limited or absent speech.

Abnormalities of the palate. 45% of individuals have a defect (cleft) in the roof of the mouth (palate).

Teeth anomalies. virtually all individuals have abnormalities of either the baby or adult teeth. Some of these abnormalities need x-rays to be seen.

Behavioral issues with or without Bone or Brain MRI anomalies.Different behavioral issues can be seen starting in childhood. A higher risk for weaker bones and seizures is also seen.

2: Age of onset before 2 years of age

Other complications of SAS include low muscle tone, feeding difficulties, growth retardation, excessive drooling, and eye anomalies.