Clinical Characteristics

While the diagnosis of SAS still relies on molecular confirmation of a pathogenic variant in SATB2, a distinctive phenotype can often be identified. Speech delay is present in all individuals older than 2 years of age often with severe expressive language delay. Dental abnormalities are present in all individuals and include delayed development of the mandibular second bicuspids or the roots of the permanent teeth, severely rotated or malformed teeth, taurodontism, and multiple odontomas. Behavioral difficulties, feeding issues, abnormal brain neuroimaging, low bone density, suggestive facial features, and cleft palate complete the characteristic phenotype of SAS. A summary of the main clinical features is included in the following table.