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SATB2-associated syndrome is a condition that affects several body systems. It is characterized by intellectual disability, severe speech problems, dental abnormalities, other abnormalities of the head and face (craniofacial anomalies), and behavioral problems.
Some of the common features can be described using the acronym SATB2 (which is the name of the gene involved in the condition): severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.
Individuals with SATB2-associated syndrome typically have mild to severe intellectual disability, and their ability to speak is delayed or absent. Development of motor skills, such as rolling over, sitting, and walking, can also be delayed. Many affected individuals have behavioral problems, including hyperactivity and aggression. Some exhibit autistic behaviors, such as repetitive movements. A happy or overfriendly personality is also common among individuals with SATB2-associated syndrome. Less common neurological problems include feeding difficulties and weak muscle tone (hypotonia) in infancy. About half of affected individuals have abnormalities in the structure of the brain.
The most common craniofacial anomalies in people with SATB2-associated syndrome are a high arch or an opening in the roof of the mouth (high-arched or cleft palate), a small lower jaw (micrognathia), and dental abnormalities, which can include abnormally sized or shaped teeth, extra (supernumerary) teeth, or missing teeth (oligodontia). Some people with SATB2-associated syndrome have other unusual facial features, such as a prominent forehead, low-set ears, or a large area between the nose and mouth (a long philtrum).
Less-commonly affected are the heart, genitals and urinary tract (genitourinary tract), skin, and hair.
SATB2-associated syndrome is a rare condition. Its prevalence is unknown.
SATB2-associated syndrome is caused by genetic changes that affect the SATB2 gene. These include mutations within the SATB2 gene itself and deletions of large pieces of DNA from chromosome 2 that remove the SATB2 gene and other nearby genes. The SATB2 gene provides instructions for making a protein that is involved in the development of the brain and structures in the head and face. The SATB2 protein directs development by controlling the activity of multiple genes in a coordinated fashion.
Researchers suspect that genetic changes affecting the SATB2 gene reduce the amount of functional SATB2 protein. Reduction of SATB2 function likely impairs normal development of the brain and craniofacial structures, leading to intellectual disability, delayed speech, craniofacial anomalies, and other features of SATB2-associated syndrome.
The signs and symptoms of SATB2-associated syndrome are usually similar, regardless of the type of mutation that causes it. However, uncommon features of the condition, such as problems with the heart, genitourinary tract, skin, or hair, tend to occur in individuals with large deletions. Researchers suspect these features are related to the loss of other genes near SATB2.
SATB2-associated syndrome is not typically inherited. It results from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Affected individuals have no history of the disorder in their family.
5. Other Names for This Condition
2q32 deletion syndrome
2q33.1 microdeletion syndrome
chromosome 2q32-q33 deletion syndrome
This entry is adapted from https://medlineplus.gov/genetics/condition/satb2-associated-syndrome
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