Saethre-Chotzen Syndrome | Diagnosis & Treatment

How is Saethre-Chotzen syndrome diagnosed?

Your child's doctor can typically diagnose Saethre-Chotzen syndrome at birth by the physical signs.

Diagnostic tests that may be performed to confirm the diagnosis include:

  • X-ray - A diagnostic test that uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs on film.
  • Computerized tomography scan (Also called a CT or CAT scan) - A CT scan shows detailed images of any part of the body, including the bones, muscles, fat and organs. CT scans are more detailed than general x-rays.

Your doctor can also use a blood sample to make a definitive genetic diagnosis.

How is Saethre-Chotzen syndrome treated?

Your child should be evaluated by members of an experienced interdisciplinary team. No single specialist can manage Saethre-Chotzen syndrome and its associated problems, as treatment usually involves many areas of specialty.

Depending on the severity of the disorder, your child may require some or all of the following treatments:

  • surgery to re-shape the skull
  • surgery to repair nose or eyelids
  • surgery to separate webbed fingers or toes
  • regular eye exams with an ophthalmologist
  • hearing tests with an audiologist
  • speech therapy
  • orthodontics, to straighten teeth
  • orthopedics, to care for skeletal deformities

Surgery

Before surgery, your child's physician will explain the operation and may review "before and after" photographs of children who may have had a similar type of surgery.

Following the operation, it is common for your child to have a turban-like dressing around his/her head. The face and eyelids may be swollen after this type of surgery. Your child is typically transferred to the intensive care unit after the operation for close monitoring.

Problems after surgery may occur suddenly or over a period of time. Your child may have the following complications:

  • fever (higher than 101 degrees)
  • vomiting
  • symptoms of headache
  • irritability
  • redness and swelling along the incision areas
  • decreased alertness and symptoms of being tired

These complications require prompt evaluation by your child's surgeon. Our team educates your family after surgery on how to best care for your child at home and outlines specific problems that require immediate medical attention.

What's the long-term outlook for my child?

After treatment, your child should go on to have a normal lifespan.