Saethre-Chotzen syndrome

What is Saethre-Chotzen syndrome?

Saethre-Chotzen (SAY-three CHOTE-zen) syndrome is a condition a baby is born with that can cause an abnormally shaped head and problems in other parts of the body as well. It affects about 1 out of 50,000 babies.

In Saethre-Chotzen sydrome, the bones of the skull that grow together too soon are usually located on the top of the head. This area is called the coronal suture. But other bones in the skull can also fuse too soon as well.

Not every baby who has Saethre-Chotzen syndrome will have the same symptoms. It can affect every person who has it differently, even if they have the same parents. Symptoms can also range in severity. Some people have practically no symptoms, while others may have problems in different places throughout the body.

Sathre-Chotzen has symptoms in common with other types of syndromic craniosynostosis. That’s why it’s important for doctors to find out exactly what syndrome a baby has so they can plan the best treatment. Some features that set Saethre-Chotzen syndrome apart are:

• Low-set hairline in the front
• Small, low-set ears
• Short, often joined fingers

In general, the other more common symptoms of Saethre-Chotzen syndrome include:

• One side of the face that doesn’t match the other side
• Eyes that point in different directions
• Droopy eyelids

Less common symptoms may include:

• Abnormalities in the spine
• An underdeveloped upper jaw
• Unusually widely spaced eyes
• Wider than usual big toes, or other unusual shapes
• Cleft palate or other problems in the roof of the mouth
• Breathing problems during sleep
• Abnormal fusion of bones in the forearm
• Increased pressure inside the skull
• Shorter than usual stature
• Heart structure abnormalities
• Hearing loss
• Eye ducts that don’t drain properly
• Abnormalities in the bones around the eyes
• Downward-slanting eyes
• Usually shaped eyelids
• A broader than usual nose, that may also appear to be beaked or turned to one side at the tip

Most babies with the condition have normal intelligence, although it is possible in rare cases for the syndrome to cause learning and developmental delays.

What causes Sathre-Chotzen syndrome?

In most cases, an abnormality in a specific gene, called the TWIST1 gene, causes Saethre-Chotzen syndrome. This gene plays a role in the way the head, face, arms and legs form. Very rarely, the cause is missing or disorganized material in the chromosome where the TWIST1 gene is located.

Typically, the gene is passed down from a parent. However, the abnormality can also develop on its own while the baby is in the womb. It is possible for a parent who has the abnormal gene to have very few symptoms and be unaware the genetic problem is there.

When a baby is born with Sathre-Chotzen syndrome, it is important for parents to speak with a genetic counselor. If a parent has the abnormal gene, there is a 50/50 chance that future children will inherit the gene from that parent. Even though the parent may not have symptoms, any future child could. There isn’t a way to know if a future child will have symptoms or how severe they might be.

How is Sathre-Chotzen syndrome diagnosed?

In many cases, doctors may suspect a baby has Sathre-Chotzen syndrome following a physical exam of the baby’s head and hands. The diagnosis is confirmed with genetic testing showing the abnormal TWIST1 gene.

With a diagnosis of Saethre-Chotzen syndrome, often a doctor will order additional tests, such as x-rays or CT scans, to look at bones in the skull and other parts of the body. These tests help doctors see if there are other abnormalities. They can also help determine what treatment the baby needs.

Treatment for Sathre-Chotzen syndrome

The treatment for Saethre-Chotzen syndrome will depend on a baby’s specific symptoms. Treatment can be different for every baby who has the condition.

Treatment for an abnormally shaped skull is surgery. When this surgery is needed, it is typically done in the first year of a baby’s life. Learn about surgery for craniosynostosis. The doctors who do this type of surgery are pediatric craniofacial surgeons. They have advanced training in surgeries on children’s heads and faces.

Because Saethre-Chotzen syndrome can cause a range of symptoms, babies who are born with the condition should be treated in centers where there are doctors trained to care for all the possible symptoms.

In addition to craniofacial surgeons, other specialists may include:

• Neurosurgeons
• Orthodontists /oral surgeons
• Speech therapists
• Ophthalmologists (eye doctors)
• Audiologists (hearing specialists)
• Otolaryngologists (ear, nose and throat doctors)
• Plastic surgeons
• Pulmonologists (lung doctors)
• Genetic counselors

These specialists will work together to treat babies with Saethre-Chotzen syndrome throughout childhood. They can identify symptoms and manage them as the baby grows into adulthood. As a team, they can help children with the condition reach their best potential.

Long-term outlook for Sathre-Chotzen syndrome

Most babies with Saethre-Chotzen syndrome have normal intelligence and development. With care from an experienced craniofacial team, they can lead happy, fulfilling lives

In rare cases, babies with the condition may experience learning and development difficulties. This is more likely when the chromosome where the abnormal gene is located has missing or misarranged genetic material.

For some children, the syndrome can cause abnormalities in the spine at the base of the head. These children should exhibit caution when participating in sports that could cause injuries to that area.

In every case, children with the condition do better when they get care early on at a craniofacial center with all the specialists available who can help with symptoms.

Get help at Children’s of Mississippi

The craniofacial team at Children’s of Mississippi is experienced in all aspects of care for children with Saethre-Chotzen syndrome. We have all the pediatric specialists needed to manage the range of symptoms that can be a part of this diagnosis, including genetic counselors to help parents understand any family impact. You can request a consultation with our pediatric craniofacial surgeons. They will be happy to answer your questions and help you understand your options. Schedule an appointment online.

Last reviewed: July 6, 2026