SATB2 syndrome


SATB2 is a gene on chromosome 2q33.1, which was first found to be linked with cleft palate in 1999. Affected people were also noted to have learning difficulties, facial features such as a prominent nasal bridge and a small mouth and long, slender fingers. Further studies have shown that losing SATB2 is a relatively common cause of learning difficulties with or without a cleft palate. Many of the features of the children with SATB2 syndrome are similar to those in people with a chromosome 2q33.1 microdeletion which includes the SATB2 gene.

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