Saethre-Chotzen syndrome (SCS)

SCS is an inherited condition which is associated with craniosynostosis. In affected patients, the skull fuses prematurely, leading to an asymmetrical face: widely spaced eyes and a high forehead. Mutations in the TWIST gene have been shown to cause this condition, but other genes in the same pathway might be responsible for the same developmental defects. SCS patients can be checked for potential mutations in candidate genes.

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