Schinzel syndrome, also known as Schinzel-Giedion syndrome, is a rare genetic disorder characterized by multiple physical and developmental abnormalities. It was first described by Schinzel and Giedion in 1978. This syndrome is caused by a mutation in the SETBP1 gene.
Individuals with Schinzel syndrome 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.
Neurological manifestations are common in Schinzel syndrome, with affected individuals experiencing severe intellectual disability, delayed development, and seizures. They may also have vision and hearing impairments.
Due to the complexity and severity of symptoms, management of Schinzel syndrome involves a multidisciplinary approach. Treatment focuses on addressing individual symptoms and providing supportive care.
It is important for individuals with Schinzel syndrome to receive early intervention and ongoing medical support to optimize their quality of life.