Saethre-Chotzen syndrome

Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniostenosis syndrome.

A point mutation or deletion in the TWIST1 gene results in the early occlusion of the skulls, especially the coronary suture. These phrases may reduce the volume of the skull. This creates the risk of increased intracranial pressure for those affected. Headaches, vision disturbances, seizures and mental retardation can result from this. Often, patients also suffer from malformations of the face, such as asymmetries, cleft palate, and narrows of the nasal canal.

Syndactylies of middle and index fingers, as well as dwarfism and malformations of the vertebral column, can also be observed in those affected.

If the disease is detected and treated in good time, the prognosis is very favorable.