Clinical Guidance

SATB2-associated syndrome (SAS) is a multisystem disorder characterized by significant neurodevelopmental compromise with limited or absent speech, behavioral issues, and craniofacial anomalies. To date, more than 500 individuals have been identified with a pathogenic variant in SATB2 [, , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. SATB2-Associated Syndrome: Frequency of Select Features

Diagnostic Criteria

No formal clinical diagnostic criteria have been established for SATB2-associated syndrome (SAS).

Suggestive Findings

SAS should be suspected in individuals with the following clinical and family history findings.

Clinical findings

• Typically moderate-to-profound developmental delay or intellectual disability, including severe speech delay and, in some, absence of speech; however, individuals with milder developmental delay affecting predominantly speech have been reported.

Management Guidelines

No consensus clinical practice guidelines for SATB2-associated syndrome (SAS) have been published. Some broad recommendations have been published , and dedicated neurologic and skeletal surveillance recommendations have been proposed based on two large cohort studies . In the absence of published consensus guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. SATB2-Associated Syndrome: Recommended Surveillance