SATB2-associated syndrome (SAS, Glass syndrome) is an autosomal dominant disorder characterized by developmental delay/intellectual disability with absent or limited speech development, palatal and dental abnormalities, feeding difficulties, behavioral problems, and dysmorphic facial features.
Other supportive findings such as skeletal anomalies with low bone density and abnormal brain neuroimaging have been described. While the exact prevalence of SAS is not known, mutations in the SATB2 gene are often found in large cohort studies of individuals with undiagnosed developmental delay and with an estimated incidence of approximately 1/30,000 individuals.
SATB2