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What is Saethre-Chotzen Syndrome?

By R. Grieser
Updated May 17, 2024
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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.

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Discussion Comments

By KaBoom — On Feb 09, 2012

This does sound awful, but at least it is fairly rare. Other genetic diseases, like Down Syndrome symptoms, are a lot more common. I mean, I've never even heard of this disease until recently, when I read an article in my local newspaper about a local child that has it.

In that case, his mother also had the disease, but hers was so mild they didn't detect it. However, the child's case was much more serious. I feel bad for the poor mother, because she didn't realize she had any genetic diseases to pass along to her child!

By Azuza — On Feb 08, 2012

@sunnySkys - Yes, disorders that affect ones looks can be awful. But, unlike something like heart defects, Saethre-Chotzen syndrome isn't life threatening and doesn't usually affect a person mental capacity. So there's that, at least.

I think it's interesting this disorder affects boys and girls equally. I guess that means this disease isn't carried by one of the sex chromosomes, because usually those disease affect one gender or the other more often.

By sunnySkys — On Feb 07, 2012

I always feel horrible for people that have congenital syndromes that affect their looks so much. I know we all hate to admit it, but looks are important in our society. I once read a study that said prettier people get promoted more and even get better service in stores!

Plus, looking out of the ordinary can definitely leave a kid open for teasing, which can be horrible for kids. I can see why a parent would want to get surgery done on an infant with this disorder, in hopes of making their life just a little bit easier.

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