Saethre-Chotzen syndrome , SCS (skrót)
acrocephalosyndactyly type 3 , ACS III (skrót)

Saethre-Chotzen syndrome is usually inherited as an autosomal dominant trait.

Saethre-Chotzen syndrome is also known as acrocephalosyndactyly type III.

Hence, the name Saethre-Chotzen Syndrome was derived from the two scientists, who had separately described the condition without any previous knowledge of the other.

Prenatal diagnosis of Saethre-Chotzen Syndrome in high risk pregnancies is doable, but very uncommon and rarely performed.

Mutations in the TWIST1 gene are associated with Saethre-Chotzen syndrome, breast cancer, and Sézary Syndrome.

In many infants with Saethre-Chotzen syndrome, cranial sutures may fuse unevenly, causing the head and face to appear somewhat dissimilar from one side to the other (craniofacial asymmetry).

In Saethre-Chotzen syndrome the ears may be low set, posteriorly rotated, have other minor anomalies, and there may be a presence of a conductive hearing loss or a mixed hearing loss (Perterson-Falszone, 2001).

Saethre-Chotzen syndrome (SCS), also known as Acrocephalosyndactyly type III is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull).