What is Schinzel Giedion Syndrome

Schinzel-Giedion Syndrome (SGS) is an extremely rare genetic disorder characterized by multiple physical and developmental abnormalities. It was first described by Schinzel and Giedion in 1978. SGS is caused by a mutation in the SETBP1 gene, which plays a crucial role in regulating cell growth and development.

Individuals with SGS typically exhibit distinct facial features, such as a prominent forehead, widely spaced eyes, a broad nasal bridge, and a small chin. They may also have skeletal abnormalities, including short stature, abnormal curvature of the spine, and joint contractures. Developmental delays and intellectual disabilities are common, with affected individuals often experiencing severe cognitive impairment.

Other potential features of SGS include seizures, heart defects, kidney abnormalities, and gastrointestinal issues. Due to the complexity and variability of symptoms, diagnosis of SGS can be challenging and often requires genetic testing.

As SGS is a rare condition, there is limited information on its long-term prognosis and treatment options. Management typically focuses on addressing individual symptoms and providing supportive care.