SATB2-associated syndrome

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SATB2-associated syndrome

Synonyms: SAS

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe developmental delay/intellectual disability with absent or limited speech development various behavioral problems (including autistic features hyperactivity or aggressiveness) and craniofacial anomalies such as long face high and prominent forehead bulbous nose with low-hanging columella thin vermillion of the upper lip palatal (cleft palate high-arched palate and bifid uvula) and dental (abnormal upper incisors) abnormalities and micrognathia. Hypotonia and feeding difficulties are frequent. Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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SATB2-associated syndrome?

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Advocacy Organizations

SATB2 Connect

SATB2 Connect will work together with national and international organisations, Australian universities, and medical research institutes to collaborate on awareness, advocacy, and research projects to become a well-supported and informed community to further empower families to ensure they have optimised support necessary for quality of life.

Clinical Trials

For a list of clinical trials in this disease area, please click here.