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Saethre-Chotzen Syndrome

What is Saethre-Chotzen syndrome?

Saethre-Chotzen syndrome is an inherited type of craniosynostosis (premature closure of one or more of the sutures between the bony plates of the skull).

Saethre-Chotzen syndrome is a rare deformity that is closely related to Crouzon syndrome. A syndrome is a disease or disorder that has more than one identifying feature or symptom.

In addition to having craniosynostosis, children with SCS can have facial asymmetry, droopy eyelids (ptosis), small ears, a low hairline and webbing between their fingers. Although some children with SCS have learning problems, normal intelligence is more common.

How much experience do you have treating Saethre-Chotzen syndrome?

We have treated many children with SCS in the Craniofacial Center. In 2003, we treated eleven children with SCS. Each year we have one or two children with SCS come to our Center for treatment for the first time.

Although SCS is a specific craniosynostosis syndrome, management of the medical issues is much the same as for other forms of craniosynostosis. Each year we perform an average of 70 craniosynostosis surgeries.

Who gets Saethre-Chotzen syndrome?

It has been estimated that one of 25,000 to 50,000 infants are born with Saethre-Chotzen syndrome.

SCS is caused by a mutation (genetic change) in a gene called TWIST known to be important in the development of the head and limbs.

If this gene is not working properly, the tissues in these regions may become "disorganized," resulting in head and face asymmetry, early closure of the skull sutures, droopy eyes and shortened or webbed fingers and toes.

Saethre-Chotzen can be found in several generations of a family, as it is an inherited disorder. SCS syndrome is an autosomal dominant condition meaning that only one abnormal TWIST gene is needed to cause the condition.

A person with Saethre-Chotzen syndrome has a 50% chance for each pregnancy of passing this mutation on to the child.

Although it is a genetic condition, the parents of most children born with SCS do not have SCS themselves. The mutation can occur in any child at the time of conception.

We do not know why this happens but it is not because of anything that the parents do or don't do during pregnancy.

What does a baby with Saethre-Chotzen syndrome look like?

Most children with SCS have minor 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.

How is Saethre-Chotzen syndrome treated?

Most children with SCS have craniosynostosis (premature closure of one or more of the sutures between the bony plates of the skull).

We usually correct this type of craniosynostosis when the child is 9 to 12 months old. The timing and exact nature of the surgery is tailored to the child.

If the child has other differences needing surgical treatment, such as cleft palate or webbed fingers, the timing of these repairs will be taken into consideration in a coordinated treatment plan.

Other potential issues like feeding problems, hearing loss and developmental delays will be monitored and treated as needed.