Main Characteristics

Regardless of the cause of the changes in the SATB2 gene, some clinical features have been consistently described in SATB2-associated syndrome (SAS).

An easy way to remember the main features is by using the acronym S.A.T.B.2: S, Severe speech anomalies; A, Abnormalities of the palate (roof of the mouth); T, Teeth anomalies; B, Behavioral issues with or without Bone or Brain MRI anomalies, and age of onset before 2 years of age. It is important to note, however, that these findings are not seen in all patients and do not concretely lead to a diagnosis of SAS.

Below is a more detailed list of symptoms that have been reported in children with SAS:

  • Developmental delay and/or Intellectual disability: virtually all cases reported have had some degree of developmental delay.
  • Speech delay: language development is the main area of development affected and often with very limited (40%) or absent speech (48%).
  • Dental (teeth) (88%): from abnormal shape and size of teeth to missing teeth, dental issues are frequently found.
  • Behavior (69%): several different behavioral abnormalities have been reported including autistic behaviors, hyperactivity, aggressive tendencies, difficult behavior, and inappropriate laughter.
  • Palate (roof of the mouth) (82%): very common when combining high-arched (23%) palate and cleft palate (59%).
  • Brain MRI anomalies: detected in about 50% of cases.
  • Skeletal (bone) (61%): the most common reported abnormality is osteopenia (weaker bones) in 29% of patients.
  • Neurological: low muscle tone is found in 42% of patients while clinical seizures are reported in about 20% of cases. Abnormalities in brain electrical activity as detected by electroencephalogram (EEG) might be more common.
  • Gastrointestinal: Feeding difficulties in infancy are common (50%).
  • Growth retardation: reported in about a third of patients with microcephaly (smaller head size) in about a quarter of cases.
  • Other less common problems include those that affect the heart, genital areas, skin, and eyes.