About SATB2

  • Severe speech and language anomalies

  • Abnormalities of the palate

  • Teeth abnormalities

  • Behaviour issues with or without bone or brain anomalies

  • Onset before age 2

Individuals with SATB2-associated syndrome (2q33.1) are generally incredibly happy, with the most beautiful smiles. They have a kind and overfriendly personality which is often referred to as a happy disposition, this is a common trait among individuals with SATB2-associated syndrome.

Characteristics of SATB2-associated syndrome

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 behavioural 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, behaviour 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 fine motor skills and gross motor skills, such as rolling over, sitting, and walking, can also be delayed. Many affected individuals have behavioural problems, including hyperactivity and aggression. Some exhibit autistic traits, such as repetitive movements. Sensory Processing Disorder and Dyspraxia can also be described. 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. As children get older, bone related issues such as osteoporosis or scoliosis can be discovered.

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