Chromosomal and Genetic Conditions

Saethre-Chotzen Syndrome

What Is Saethre-Chotzen Syndrome?

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

SCS is a rare deformity that has similarities to other craniosynostosis syndromes. 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.

Saethre-Chotzen Syndrome in Children

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

The cause of Saethre-Chotzen syndrome is a mutation (genetic change) in a gene called TWIST1 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.

Saethre-Chotzen Syndrome at Seattle Children's

We have treated many children with SCS in the Craniofacial Center. In 2008 we treated 12 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. Last year we performed more than 100 surgeries on patients with craniosynostosis.