Saethre-Chotzen Syndrome

What is Saethre-Chotzen syndrome?

Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones, which prevents the skull from growing normally and affects the shape of the head and face.

Some characteristic traits of children with Saethre-Chotzen syndrome:

  • irregular head growth
  • droopy eyelids
  • wide-set eyes
  • beaked nose
  • crossed eyes (strabismus and amblyopia)
  • short fingers and/or toes (some may be fused)
  • low hairline

Most children with Saethre-Chotzen syndrome are of normal intelligence.

What are the symptoms of Saethre-Chotzen syndrome?

In addition to the physical characteristics common to the condition, your child may experience growth delays, leading to less-than-average adult height.

If your infant has this condition, you or your child's physician may notice changes in the shape of the head and face. The appearance of your child's face may not be the same on both sides.

Other symptoms your child may have include:

  • a full or bulging fontanelle (soft spot located on the top of the head)
  • sleepiness (or less alert than usual)
  • scalp veins may be very noticeable
  • increased irritability
  • high-pitched cry
  • poor feeding
  • projectile vomiting
  • increasing head circumference
  • seizures
  • bulging eyes and an inability to look up with the head facing forward
  • developmental delays

What causes Saethre-Chotzen syndrome?

Saethre-Chotzen syndrome is the result of an inherited gene or, less commonly, a genetic mutation.

How common is Saethre-Chotzen syndrome?

Saethre-Chotzen syndrome occurs in about 1 in 25,000 to 50,000 babies.

  • If one parent has Saethre-Chotzen syndrome, there is a 50 percent chance that the child will be born with the disorder.
  • Unaffected parents who have one child with Saethre-Chotzen syndrome rarely give birth to a second child with the condition.

How we care for Saethre-Chotzen syndrome

The Craniofacial Program at Boston Children's Hospital provides a team approach to the evaluation, diagnosis, and treatment of children and adults with congenital or acquired facial deformities. If your child has been suffering from Saethre-Chotzen syndrome, our doctors can help.

Expert team

Our program is staffed by an experienced team of clinicians, all with specialized training in the care of children with craniofacial anomalies.

Each year we treat more than 500 patients, 250 of them new patients, making our program one of the most experienced programs of its type in the country.