Saethre-Chotzen Syndrome

Saethre-Chotzen syndrome happens because of a change (mutation) in a gene that affects how a baby’s head and limbs 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 the mother or father. Other times, a parent passes an abnormal gene to a child.

Every year we care for more than 150 children with craniosynostosis syndromes, including Saethre-Chotzen.

Our experience with craniofacial conditions helps us find problems early and take steps to prevent or treat them. We watch carefully for problems that may develop with your child’s breathing, eating, vision, hearing and development.

Over the past 5 years, we have cared for 19 children with Saethre-Chotzen syndrome. Our experience with this rare condition helps us to continually improve our care. We can recommend the right treatment at the right time to have the best results for your child and your family.

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.

Our approach helps children with Saethre-Chotzen syndrome get the maximum benefit from surgeries they have early in childhood. As a result, later in life, some surgeries are either not needed or are less extensive.

• 3-D imaging and powerful software help us predict future growth. Our surgery and orthodontic corrections take into account continued growth of your child’s bones. When your child is finished growing, their bones are in the desired position.
• A craniofacial plastic surgeon and pediatric neurosurgeon work as a team during surgery on your child’s skull.

Our center has experts in every field your child might need. These 50 specialists work together to diagnose and care for our patients.

Our team meets weekly to discuss children with complex needs and decide on the best care plan for each child. We work together, and with you and your family doctor, to manage your child’s personalized care.

A craniofacial pediatrician, nurse and social worker will work closely with your family. They help coordinate care and make sure all your questions are answered.

Your child’s craniofacial pediatrician guides your child’s treatment and decides if other specialists are needed. Your child’s team may include a craniofacial plastic surgeon, pediatric neurosurgeon, feeding therapist, dietitian, ophthalmologist, otolaryngologist, oral-maxillofacial surgeon, orthodontist, audiologist and speech and language pathologist (SLP).

We care for care for your child’s physical, emotional and comfort needs. Read more about the supportive care we offer.

A diagnosis of Saethre-Chotzen syndrome can be scary. We take time to explain your child’s condition. We help you fully understand your treatment options and make the choices that are right for your family.

As your child gets older, we make sure they play a role in decisions about their medical care.

Our child life specialists and social workers support your child and your family through the challenges of this condition. We help you find community resources and support groups.

Seattle Children’s provides craniofacial care for children in an area one-fourth the size of the continental United States. We also care for children from across the globe. This experience has helped us develop systems to provide outstanding, personalized care at great distance.

Our team has created a clinical care pathway for craniosynostosis. It guides our treatment of related syndromes like Saethre-Chotzen. It is based on the research evidence about what is most effective.

We receive more research funding from the National Institutes of Health (NIH) than any other craniofacial center in the United States.

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

Learn about craniosynostosis research at Seattle Children’s.

Your doctor may also do genetic tests to confirm the diagnosis. Saethre-Chotzen syndrome is caused by a change in a gene (TWIST1) that affects how a baby’s head and limbs develop before birth.

Our Craniofacial Genetics Clinic helps identify conditions caused by changes in genes. Our geneticists and genetic counselors can advise you about the pros and cons of genetic testing. They 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 the syndrome. 

• A person with Seathre-Chotzen syndrome has a 50% chance in each pregnancy of passing down the gene that causes the condition.

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

In severe cases, a child may need a tube inserted in their windpipe (tracheostomy) soon after birth.

Later, your child will likely have surgery to reposition their jaw and face bones to help with breathing and other problems.

About 5% of children with Saethre-Chotzen syndrome have trouble breathing while they sleep (obstructive sleep apnea). Over time, this may lead to problems with how the heart and lungs work. It also can contribute to problems with learning and behavior.

We will ask questions during clinic visits to assess whether this may be a problem. To better understand their breathing patterns, we may monitor your child overnight in our sleep lab (PDF) (Arabic) (Simplified Chinese) (Somali) (Spanish) (Vietnamese).

The treatment options and timing will depend on your child.

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 advise you about 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 a moving X-ray to understand how your child swallows (swallow 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.

For details, see Treating Cleft Lip and Cleft Palate.

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 build-up 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 during infancy or as your child grows.

• If fluid builds up in your child’s brain, they may need a tube inserted to drain away extra fluid. The fluid drains into another part of the body, where it can be absorbed.
• 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.

In some children with Saethre-Chotzen syndrome, the jaws and bones in the middle of the face are too small or in the wrong position.

This can cause problems with breathing during sleep, chewing and how the teeth line up. A poor bite is called malocclusion.

The type of midface advancement surgery we recommend depends 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

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

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

Working with an occupational therapist (OT), physical therapist (PT) or speech therapist can help your child reach their full potential. Often therapists come to your home to provide support services.

Your craniofacial pediatrician and social worker will work with you to find resources in your community.

Many children with Saethre-Chotzen syndrome have droopy eyelids (ptosis). In some children, their eyes do not align properly.

If your child’s eyes cross inward (cross-eyed) or wander outward (wall-eyed), we will assess their vision regularly starting before age 2. Having misaligned eyes is called strabismus.

Both conditions should be corrected during early childhood to prevent lazy eye (amblyopia). In lazy eye, 1 eye does not develop normal vision.

Your child may need to wear an eye patch. Some children may need eye surgery.

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 (occlusion).

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.

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
• Malformed big toes
• 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. 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.