SATB2-associated syndrome


Disease Overview

The SATB2-associated syndrome (SAS) is a recently described condition, characterized by developmental delay, intellectual disability with absent or limited language skills, palatal and dental abnormalities, behavioral problems, and unusual facial features. The main symptoms can be remembered using the acronym S.A.T.B.2 (SSevere speech anomalies; AAbnormalities of the palate; TTeeth anomalies; BBehavioral issues with or without Bone or Brain anomalies, and age of onset before 2 years of age). Other features may include osteopenia and Rett-like problems.[12959][12961][12962] The SATB2 gene is located in chromosome 2q32 (the region designated as q32 on the long (“q”) arm of chromosome 2), and many of the features are similar to the “2q33.1 microdeletion syndrome“. This gene is important for the development of the face, brain and bone.  Alterations to the SATB2 gene can result from different mechanisms, such as contiguous deletions (missing pieces of the chromosome 2 that include the SATB2 gene and other genes that are close together), duplications (extra pieces of genetic material) translocations (rearrangements involving the gene), or point mutations (a mutation that only affects a single nucleotide of the DNA).[12959] Treatment depends on the symptoms, and may involve behavioral and physical therapy, surgery for cleft palate repair and orthodontic treatment.[12959]

The organization UNIQUE has published information about SATB2-associated syndrome.


  • SATB2 syndrome
  • SAS
  • 2q32q33 microdeletion syndromes
  • Monosomy 2q32-q33
  • Del(2)(q32q33)
  • Del(2)(q32)
  • 2q32-q33 microdeletion syndrome
  • Glass syndrome

For more information, visit GARD.

National Organization for Rare Disorders