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Disease Profile

SATB2-associated syndrome

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

SATB2 syndrome; SAS; 2q32q33 microdeletion syndromes;


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.[1][2][3] 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).[1] Treatment depends on the symptoms, and may involve behavioral and physical therapy, surgery for cleft palate repair and orthodontic treatment.[1]

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


Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Social Networking Websites

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss SATB2-associated syndrome. Click on the link to view a sample search on this topic.

          Selected Full-Text Journal Articles


            1. Zarate YA & Fish JL. SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. Am J Med Genet A. February, 2017.; 173(2):327-337. https://www.ncbi.nlm.nih.gov/pubmed/27774744.
            2. Lee JS, Yoo Y, Lim BC, Kim KJ, Choi M & Chae JH. SATB2-associated syndrome presenting with Rett-like phenotypes. Clin Genet. June 2016; 89(6):728-32. https://www.ncbi.nlm.nih.gov/pubmed/26596517.
            3. Zarate YA & cols. Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. Am J Med Genet A. May, 2015; 167A(5):1026-32. https://www.ncbi.nlm.nih.gov/pubmed/25885067.