Children's Hospital Colorado

Saethre-Chotzen Syndrome

What is Saethre-Chotzen syndrome?

Saethre-Chotzen syndrome is a condition characterized by abnormalities of the skull and midface. Patients with Saethre-Chotzen syndrome may also have cleft palate and/or short and webbed fingers and toes.

Who gets Saethre-Chotzen syndrome?

Saethre-Chotzen syndrome is a rare congenital condition that occurs in 1 of 25,000 to 50,000 newborn babies with a 1:1 male to female ratio. It can be inherited in an autosomal dominant fashion from a parent with Saethre-Chotzen syndrome, or be due to a fresh genetic mutation. A parent with Saethre-Chotzen syndrome has a 50% chance of passing the condition to a child. The mutation occurs on a gene called TWIST1.

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