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Saethre-Chotzen syndrome is a rare genetic disease caused by premature skull bone fusion, resulting in asymmetrical facial features. It can also cause webbing of fingers and toes. It is inherited and can be diagnosed through a blood test. There is no cure, but surgery can help with severe symptoms.
Saethre-Chotzen syndrome (SCS) is a disease in which symptoms are caused by premature fusion of the bones in the skull. This results in a face that can appear asymmetrical for a variety of reasons. It’s relatively rare, although some doctors suspect it may be more common than you think; its symptoms can be so mild that they go undiagnosed. SCS appears to affect boys and girls — and all races — in equal numbers and, while rare, is the most common of a group of syndromes related to 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 of 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 appear to bulge due to shallow sockets. The eyes are also often crossed. The nose may appear pointed and 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 fully develop and the hairline starts very low on the forehead. Although most of the symptoms are related to the face and skull, this syndrome can also cause webbing of the fingers and toes.
Aside from physical characteristics, 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, although some patients may require surgery to alter some of their facial features, particularly if the eyes are severely affected. If surgery is needed, it will most likely happen while the patient is young, usually between 9 and 12 months.
Saethre-Chotzen syndrome is an inherited disease. Only one parent needs to be a carrier of the disease for a child to inherit it. This means that there is a 50% chance that a parent will pass the disease on to their child. Although SCS was commonly confused with similar syndromes, a simple blood test can now definitively tell doctors whether a patient has SCS or some other syndrome affecting skull formation. Patients with Saethre-Chotzen syndrome should be treated and monitored by physicians who specialize in craniofacial disorders.
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