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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.
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.
The skull is affected by craniosynostosis, or premature fusion of sutures in the skull. Typically, one or both sides of the coronal suture are involved, resulting in an abnormal head shape. The forehead may be flat and tall. The child may have a low hairline, ptosis (droopy eyelids), a beaked nose and hand and foot abnormalities (short and webbed fingers and toes). Intelligence is usually normal.
Examination of your child's skull, face and body will help guide your child's doctor at Children's Hospital Colorado towards a correct diagnosis. You will be seen by a geneticist to test whether your child has the genetic mutation that causes Saethre-Chotzen syndrome. A CT scan and/or an MRI will be used to diagnose the changes in the skull that are associated with Saethre-Chotzen syndrome.
A thorough evaluation by the experts at our Craniofacial Center will be undertaken. Your child may also see specialists in consultation to better diagnose and treat his or her particular condition(s). Together we will create a comprehensive treatment plan for your child.
The main concerns in the early treatment planning for children with Saethre-Chotzen syndrome have to do with the brain and vision.
The premature fusion of multiple sutures in the skull may cause restriction on the growing brain. This constriction can cause increased intracranial pressure. In order to release the pressure, surgery on the skull may need to be undertaken within the first year. This may be in the form of cranial remodeling or distraction osteogenesis, depending on the specific needs of the child. If there is no evidence of increased intracranial pressure, the surgery to correct craniosynostosis is usually undertaken between 6-12 months.
Timing for the surgeries to correct the eyelids and syndactyly (webbing) of the fingers can be planned according to symptoms and severity.
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