Saethre-Chotzen Syndrome

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What is Saethre-Chotzen syndrome?

Saethre-Chotzen is a rare type of — early closing of one or more of the soft, fibrous seams (sutures) between the skull bones. Saethre-Chotzen is pronounced SAYTH-ree CHOTE-zen.

Normally, the sutures let the skull expand as the brain grows. If a suture closes too early, a baby’s skull cannot grow in the typical way. This changes the shape of the head and reduces room for the growing brain. It can increase pressure inside your child’s skull.

Saethre-Chotzen syndrome often affects the coronal sutures that go over the top of the skull from ear to ear.

Children with this condition need coordinated care by providers from many areas of healthcare. At Seattle Children’s Craniofacial Center, our team of experts covers 19 different specialties.

Saethre-Chotzen syndrome happens in 1 of 25,000 to 1 of 50,000 newborns.

What causes Saethre-Chotzen syndrome?

Saethre-Chotzen syndrome happens because of a change (mutation) in a that can affect how a baby’s head and hands develop before birth. The gene is called TWIST1.

We do not know why this happens. It is not because of anything that the parents do or do not do during pregnancy.

Usually, the condition is caused by a new genetic change that was not inherited from a parent. Other times, a parent passes an abnormal gene to a child.

Seattle Children's Craniofacial Center

When it comes to diagnosing and treating craniofacial conditions, our team is among the most experienced in the world. No matter how rare the condition or syndrome, we have likely cared for someone like your child.

What are the symptoms of Saethre-Chotzen syndrome?

Symptoms of Saethre-Chotzen syndrome vary widely, even in members of the same family who have the condition. Most children with this syndrome have differences in the shape of their face and head.

Drawing of young child showing coronal sutures in the skull Drawn by Raymond Sze

Many have a tall, flat or uneven forehead. Other differences may include:

One side of the face does not match the other (facial asymmetry)
Droopy eyelids (ptosis)
Widely spaced eyes
Low hairline
Small ears, not the typical shape (microtia)

Most have typical and intelligence. Some have learning problems.

Less common differences include:

Short stature
A gap in the roof of the mouth (cleft palate)
Abnormalities in the bones of the spine
Webbed fingers
Big toes or thumbs that didn't form in the typical way
Hearing loss
Heart defects

How is Saethre-Chotzen syndrome diagnosed?

To diagnose this condition, the doctor will examine your child’s skull carefully. The shape will help the doctor tell if any of the sutures in the skull have closed too soon.

Your child’s features, including their eyelids and shape of their ears, will help the doctor tell if they have Saethre-Chotzen syndrome or another form of craniosynostosis.

A CT (computed tomography) scan of your child’s head can give the doctor more information and help us plan the best treatment for your child.

Genetic counseling and testing

Your child's doctor may also do genetic tests to confirm the diagnosis.

Our Craniofacial Genetics Clinic helps identify conditions caused by changes in genes. Our geneticists and genetic counselors can help you understand the pros and cons of genetic testing. They can explain test results and your chance of having a child with Saethre-Chotzen syndrome in a future pregnancy.

A genetic counselor also will give you information about your child’s condition. Counseling can help you make informed decisions about family planning and your child’s treatment.

Our genetic counselors also advise people with Saethre-Chotzen syndrome about their chance of having a child with it. A person with this syndrome has a 50% chance in each pregnancy of passing down the gene that causes the condition.

How is Saethre-Chotzen syndrome treated?

There is no single treatment plan for Saethre-Chotzen syndrome. The treatments and timing we recommend depend on how the syndrome affects your child. Based on your child’s needs, our specialists provide a wide range of services to help with breathing, feeding, chewing, brain health, fluid and pressure in the skull, cognitive development, vision, jaw and teeth alignment and other concerns.

Our team is skilled at performing the complex surgery your child might need, whether to expand their skull, lengthen their jaw, move their face bones or repair a cleft palate.

3-D imaging is a powerful tool that helps us predict future growth. Our surgery and orthodontic corrections take into account continued growth of your child’s bones. This way, when your child is finished growing, their bones are in the desired position.

Easing breathing

Making sure your child is breathing well is an immediate priority. Differences in the bones in the jaw or midface or an atypical windpipe can make it hard to breathe.

When your child is done growing, they will likely have surgery to change the position of their jaw and face bones. This can help with breathing and jaw alignment.

Some children with Saethre-Chotzen syndrome have trouble breathing while they sleep (). Over time, this may lead to problems with how their heart and lungs work. It also can play a part in problems with learning and behavior.

We will ask questions during clinic visits to check if this may be a problem. To better understand their breathing patterns, we may monitor your child overnight in our sleep lab.

The treatment options and timing will depend on your child.
Feeding evaluation and management

It may be hard for your baby to eat if they have differences in the roof of their mouth (palate), jaw or bones of the midface. Our Feeding Management team can help.

We will check regularly to make sure your baby is gaining weight. A dietitian may see you in the clinic to help you with your child’s diet.

We also can watch while your baby feeds and suggest changes that will make it easier for them to eat. If needed, we can do a study with an X-ray movie to understand how your child swallows (videofluoroscopic swallowing study).

If your baby has a gap in the roof of their mouth (cleft palate), we can teach you ways to feed your baby and recommend special bottles to use. Your child will need surgery to close the gap in their palate.
A healthy brain with room to grow

Many children with Saethre-Chotzen syndrome will need surgery to expand and reshape their skull. The timing of surgery will depend on which sutures have closed too soon and how many sutures are affected.

Most children need surgery that moves the forehead and the upper eye sockets forward. The procedure is called fronto-orbital advancement. It is done when your child is 9 to 12 months.

Our craniofacial plastic surgeon and neurosurgeon work together in the operating room to protect your child’s brain and achieve the best result.
Checking fluid buildup and increased pressure in the skull
Your child’s team will check for signs of fluid build-up (hydrocephalus) and increased pressure in the skull. These problems can happen when your child is a baby or as they grow.
- If fluid builds up in your child’s brain, they may need a tube inserted to drain away extra fluid.
- At regular checkups, we ask about warning signs of increased pressure, such as headaches or problems with eyesight. If there are concerns, your child may have imaging scans or a special eye exam to check for swelling at the back of the eye.
Surgery to improve breathing and chewing
In some children with Saethre-Chotzen syndrome, the jaws and bones in the middle of the face are too small or not in the typical place.

This can cause problems with breathing during sleep. It can also cause problems with chewing and how the teeth line up when the mouth is closed (occlusion).

We will recommend midface advancement surgery based on your child’s needs. Some children need surgery to:
- Bring their jaw forward and make it longer
- Enlarge other bones in the middle of their face
- Make their airway bigger
- Make their jaws and teeth fit together better
Developmental assessment and support

Most children with Saethre-Chotzen syndrome have normal cognitive development. But some have learning problems or developmental delays.

We will follow your child’s development closely. If we find developmental delays, we carefully assess your child to recommend treatments and services.

Working with an occupational therapist, physical therapist or speech and language pathologist can help your child reach their full potential. Often therapists come to a family's home to provide services.

Your child's craniofacial pediatrician and social worker will work with you to find resources in your community.
Evaluating the eyes and vision

Many children with Saethre-Chotzen syndrome have droopy eyelids (ptosis). In some children, their eyes do not line up in a typical way.

If your child’s eyes cross inward or wander outward, we will check their vision regularly starting before age 2. Having eyes that aren’t aligned is called strabismus.

Both conditions need to be treated in early childhood to prevent lazy eye (amblyopia). In lazy eye, 1 eye does not develop typical vision.

Your child may need to wear an eye patch. Some children may need eye surgery.
Aligning the teeth and jaws

As they enter the teen years, many children with Saethre-Chotzen syndrome need orthodontic treatment to correct how their upper and lower teeth fit together (poor bite, or malocclusion).

Read more about craniofacial orthodontics.

Some children also need surgery on their jaw. This happens after the bones of the face have finished growing — usually 16 years old for girls and 18 years for boys. The best procedure depends on your child.
Less common treatments
Although children with Saethre-Chotzen syndrome often have small ears with an unusual shape, few families choose to have ear reconstruction or prosthetic surgery.

Less often, a child with Saethre-Chotzen syndrome needs care for conditions such as:
- Abnormalities in the bones of the spine
- Webbed fingers
- Big toes or thumbs that didn't form in the typical way
- Hearing loss
- Heart defects
If there are concerns about your child’s spine or other bones, they will see a doctor who specializes in orthopedics or neurosurgery. We carefully check your child’s hearing as they grow. An ear, nose and throat specialist (otolaryngologist) and audiologist from the Craniofacial team will care for your child if they have any hearing loss. If your child has problems with their heart, they will see a heart specialist (cardiologist) in Seattle Children’s Heart Center.

Why choose Seattle Children’s for Saethre-Chotzen syndrome treatment?

Each year, Seattle Children’s Craniofacial Center cares for hundreds of children with craniosynostosis, including rare syndromes like Saethre-Chotzen. Our team is more experienced with craniosynostosis in children than any other center in the United States. We have experts in every field your child might need.

Many of our patients are newly diagnosed babies. We also work with children who received their initial care at another hospital. We treat children, teens and young adults up to age 21 and sometimes beyond.

The right treatment at the right time: Our experience helps us find problems early and take steps to prevent or treat them. We watch carefully for problems with your child’s breathing, eating, vision, hearing and development and recommend care for any issues they have.
Better results with fewer surgeries: Our approach helps children with Saethre-Chotzen syndrome get the most benefit from surgeries early in childhood. As a result, later in life, some surgeries are either not needed or are less extensive.
Team-based care from experts: We’ll bring together all the team members your child needs, such as a craniofacial ; nurse; ; ; craniofacial ; pediatric ; feeding therapist; ; ; ear nose and throat specialist (); ; ; ; and .
Support for your whole family: A diagnosis of Saethre-Chotzen syndrome can be scary. We take time to explain your child’s condition. We help you understand your child’s treatment options and make the choices that are right for your family.
Research to improve care: Our team created a clinical care pathway to guide treatment for craniosynostosis based on research about what is most effective. Our research is helping us to:
- Better understand the genetic causes of craniosynostosis
- Study how the condition affects learning and behavior
- Build a library of 3-D images to better measure the results of surgery and improve treatments