Saethre-Chotzen Syndrome

What Is Saethre-Chotzen Syndrome?

Saethre-Chotzen syndrome is a rare inherited type of craniosynostosis, a premature closure of one or more of the sutures, or joints, between the bony plates of the skull.

The cause of Saethre-Chotzen syndrome is a mutation in a gene that is important in the development of the head and limbs. If your child has Saethre-Chotzen syndrome, he or she may have an asymetrical head and face, craniosynostosis, droopy eyes, and shortened or webbed fingers and toes.

Even if Saethre-Chotzen syndrome is inherited in your family and you consulted a geneticist before getting pregnant, it is still normal to feel overwhelmed when considering the treatment and prognosis for your child.

At the Yale Craniofacial Program, our internationally recognized team of surgeons and cross-disciplinary specialists work together to provide top-level quality care for your child while offering the utmost support for your family.

Causes of Saethre-Chotzen Syndrome

Most likely, one of the parents or someone in your family has Saethre-Chotzen syndrome. Saethre-Chotzen syndrome is an autosomal dominant condition, meaning that only one parent needs to have an abnormal gene for the child to have a 50 percent chance of inheriting the condition.  

Saethre-Chotzen is often seen among several generations in a family. However, it can occur as a new genetic mutation, which means there is no family history of the syndrome.

Often parents are concerned when their child is the first to carry a genetic mutation. However, it is important to know that there is nothing you did to cause the mutation, nor could you have prevented your child from getting Saethre-Chotzen syndrome.

It has been estimated that 1 of 25,000 to 50,000 infants are born with Saethre-Chotzen syndrome.

Features of Saethre-Chotzen Syndrome

If your child was born with Saethre-Chotzen syndrome, your doctor will look for common elements of the disorder, such as:
  • An asymmetrical face, or a tall, flat forehead
  • Droopy eyelids
  • Crooked nose
  • Webbed fingers or toes
  • Cleft palate 
This list should be used as a guideline. Not every symptom is included. If your child has one or more of these symptoms, it does not mean that he or she has Saethre-Chotzen syndrome. If you are concerned that your child might have Saethre-Chotzen syndrome, please make an appointment with your child's doctor.

A CT scan may help provide more information. Genetic tests may be done to see if the syndrome is definitively Saethre-Chotzen. Using 3D CT imaging, we can provide a diagnosis more quickly and with more accuracy than ever before. Traditional CT scans provide black and white, one-dimensional scans, while advanced 3D imaging technology provides colored, multidimensional images that allow us to see the specific characteristics of your child’s craniofacial differences. In this way, we can better understand how your child’s birth defect will specifically impact his or her health and development. 

Treatments for Saethre-Chotzen Syndrome

Because most children with Saethre-Chotzen have craniosynostosis, the treatment process is very much the same as the process for craniosynostosis.

Other treatments for Saethre-Chotzen syndrome include surgery for cleft palate or webbed fingers, as they can be features of the syndrome.

If your child has feeding problem or hearing loss, the process is much the same as a child with cleft palate

During the planning stage, we use the most advanced 3D imaging techniques for a complete understanding of your child’s specific condition and how your child’s soft and bony tissues are affected. By gathering accurate data about your child’s craniofacial differences, we can:
  • Simulate the outcome of proposed surgical plans and adjust any discrepancies before surgery
  • Follow and monitor your child’s condition during the post-surgical healing process
  • Monitor your child’s long-term development
Because the degree of Saethre-Chotzen syndrome varies from child to child, our highly specialized medical team will tailor a treatment plan just for your child. At the Yale Craniofacial Program, our focus is on improving your child’s physical and emotional well-being and his development, as well as, working with you and your family.