SATB2 Awareness Day Date in the current year: August 22, 2025

The SATB-2 gene encodes a protein called special AT-rich sequence-binding protein 2 (SATB2), which plays an important role in embryonic development. SATB2 helps control which genes are turned on or off, particularly during the development of the brain, face, and bones. This is important for forming connections between brain cells, shaping the jaw and teeth, and guiding bone growth.

Alterations in the SATB2 gene, such as deletions, duplications, or mutations, affect the production of the SATB2 protein and can lead to SATB2-associated syndrome (SAS). This syndrome affects multiple body systems, and its main features can be described using the acronym SATB2:

• S: Severe speech and language problems
• A: Abnormalities of the palate, such as a cleft palate
• T: Teeth abnormalities
• B: Behavioral issues, such as aggression or hyperactivity, with or without brain or bone abnormalities
• 2: Onset occurs before the age of two

Other common features of SATB2-associated syndrome include mild to severe intellectual disability, delayed development of gross and fine motor skills, craniofacial abnormalities, autistic traits, such as repetitive movements, dyspraxia, sensory processing disorder, feeding difficulties, hypotonia (low muscle tone), seizures, sleep disturbances, vision impairment, and congenital heart defects.

As children with SAS get older, they may develop bone-related issues such as scoliosis or osteoporosis. Individuals with SATB2-associated syndrome typically have a happy, kind, and overly friendly personality.

SAS is an autosomal dominant disorder, meaning one copy of the mutated gene is sufficient for development of the disorder. Almost all cases of SAS result from a spontaneous (de novo) mutation. As with many genetic disorders, there is no cure for SAS.

Treatment focuses on managing specific symptoms and ensuring patients have the best possible quality of life. Patients usually require consultations with multiple health professionals, such as geneticists, neurologists, psychologists, orthopedists, dentists, and ophthalmologists, as well as regular health checkups. They can also benefit from speech and language therapy, physical therapy, occupational therapy, and special education.

SATB2 Awareness Day was created by the SATB2 Gene Foundation and the SATB2 Trust UK. It is celebrated on August 22, which is the birthday of Dr. Yuri Zarate. Dr. Zarate is an American clinical geneticist known for leading the SATB2 clinic at Arkansas Children’s Hospital. It is the only clinic in the U.S. that specializes in caring for patients with SAS.

There are many ways to get involved with SATB2 Awareness Day. For example, you can learn more about this rare syndrome and share what you’ve learned with others. You can also wear purple to raise awareness, spread the word on social media using the hashtags #SATB2 and #SATB2Awareness, or donate to an organization that supports families affected by SATB2 or funds research.