It is an inherited genetic condition
SAS is a genetic disorder. In most situations, only a single person in the family is affected.
Affects development and other organs
People with SAS have developmental delay and can have compromise of other organs.
Diagnosis can be delayed
SAS can be mistaken for other neurodevelopmental conditions. Earlier access to genetic testing can facilitate the diagnosis.
Treatment is symptomatic
Management of the syndrome is centered around the symptomatic treatment of some of the manifestations and surveillance for potential medical complications. Therapy services to maximize the individual’s potential are also paramount.
SATB2-associated syndrome (SAS) is a genetic disorder characterized by developmental delay/intellectual disability with absent or limited speech, behavioral problems, and abnormalities of the palate (roof of the mouth) and teeth. SAS has also labeled “Glass syndrome” after Dr. Ian Glass who described an individual with this condition back in 1989. Other names sometimes used to describe this condition include “2q33.1 microdeletion syndrome” or “2q32 deletion syndrome” when a copy of the SATB2 gene is missing (deletion).
Dr. Zarate speaking at the 2nd international SAS family meeting, 2018.View video on Youtube
In people with SAS, a copy of the SATB2 gene, a very important gene for the proper development of brain, bone, teeth, and palate, is damaged. Common types of gene changes are mutations (misspellings), deletions (pieces missing), or duplications (pieces extra) in the SATB2 gene.
CORE FEATURES OF SATB2-ASSOCIATED SYNDROME (SAS) CAN BE REMEMBER BY THE FOLLOWING ACRONYM USING THE NAME OF THE SATB2 GENE.
Low muscle tone, feeding difficulties, growth retardation, excessive drooling, and eye anomalies.
We do not know for certain how common or rare SAS may be. However, two recent studies estimated the frequency of SAS in large cohorts of individuals with undiagnosed intellectual disability/developmental delay at 0.24%-0.3%. As of May 2019, over 200 individuals with SAS have been described in the literature.