Chromosomal and Genetic Conditions

Saethre-Chotzen Syndrome Symptoms and Diagnosis

Symptoms of Saethre-Chotzen Syndrome

Most children with Saethre-Chotzen syndrome (SCS) have differences in the shape of their face and head.

The most common difference is a lopsided or a tall flat forehead. Other more minor symptoms, like droopy eyelids or a crooked nose, are often not noticed by families.

About one third of children with SCS have some webbed fingers or toes.

Several other less-common differences can be present, including cleft palate and short stature.

Saethre-Chotzen Syndrome Diagnosis

To diagnose this condition, your doctor will examine your child's skull carefully. The shape will help the doctor tell whether any sutures have fused.

Computed tomography (CT) imaging can give the doctor more information. A CT scan is an X-ray procedure that takes a computer-enhanced cross-sectional view of the body.

Your child's features, like their eyelids, will help the doctor determine whether they have Saethre-Chotzen syndrome or another condition.

Your doctor may also do genetic tests that show whether your child has a mutation that causes Saethre-Chotzen syndrome.