Saethre-Chotzen Syndrome

Also known as: SCS, Chotzen syndrome, acrocephalosyndacyly III.

What is Saethre-Chotzen syndrome?

When a baby is born, there are sutures, or seams, between the bones that make up the skull. Saethre-Chotzen syndrome is one of many disorders that results in these sutures closing early and preventing the skull from growing properly.
 

What causes Saethre-Chotzen syndrome?

Saethre-Chotzen syndrome is caused by genetic mutations. In most cases these mutations occur randomly, but they can occasionally be passed along from parents to children.

 
What are the symptoms of Saethre-Chotzen syndrome?

The early closure of the skull sutures leads to a number of symptoms, including droopy eyelids, widely spaced eyes, a low hairline, facial asymmetry, abnormal ears, increased pressure on the brain and other symptoms.
 

What are Saethre-Chotzen syndrome care options?

Children with Saethre-Chotzen syndrome may require support for breathing and eating early in life. Often surgery is required to relieve pressure on the brain or correct other abnormalities. Various therapies can help people with Saethre-Chotzen syndrome.

Reviewed by: Paul A Cardenas, MD

This page was last updated on: 6/21/2019 2:25:50 AM