Saethre-Chotzen syndrome (SCS) is a disorder in which symptoms are caused by the premature fusing of bones in the skull. This results in a face that can appear asymmetrical for a variety of reasons. It is relatively rare, though some doctors suspect it may be more common than thought; its symptoms can be so mild that it may go undiagnosed. SCS appears to affect boys and girls — and all races — in equal numbers and, while rare, it is the most common of a group of syndromes related skull bone fusion.
Saethre-Chotzen syndrome is named after Dr. Fritz Chotzen and Dr. Haakon Saethre. Saethre wrote an article in 1930 describing the syndrome in a woman in Norway and her two children. Chotzen, of Germany, described a family with similar characteristics in 1931.
Patients with Saethre-Chotzen syndrome, also known as acrocephalosyndactyly type 3, often have eyes that are set too far apart and seem to bulge because of shallow eye sockets. The eyes are often crossed, as well. The nose can appear pointed and is often said to resemble a beak, and the ears are often smaller than usual and set lower than normal on the head. The upper jaw does not develop fully and the hairline starts very low on the forehead. Although the majority of symptoms are related to the face and skull, this syndrome can also cause webbing of the fingers and toes.
Physical characteristics aside, patients with SCS are generally of normal intelligence, although there is some occasional mild mental retardation. Patients with SCS tend to be shorter than average but have a normal life span. There are no treatments for the syndrome itself, though some patients may require surgery to alter some of their facial features, particularly if the eyes are severely affected. If surgery is necessary, it most likely will happen while the patient is young, usually between 9 months and 12 months old.
Saethre-Chotzen syndrome is an inherited disease. Only one parent has to carry the disease for a child to inherit it. This means there is a 50 percent chance a parent will pass the disease on to his or her child. Although SCS used to be commonly confused with similar syndromes, a simple blood test can now definitively tell doctors if a patient has SCS or some other syndrome that affects skull formation. Patients with Saethre-Chotzen syndrome should be treated and monitored by doctors who specialize in craniofacial disorders.
