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Saethre-Chotzen Syndrome

  • Overview

    Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones, which prevents the skull from growing normally and affects the shape of the head and face.

    Some characteristic traits of children with Saethre-Chotzen syndrome:

    • irregular head growth
    • droopy eyelids
    • wide-set eyes
    • beaked nose
    • crossed eyes
    • short fingers and /or toes (some may be fused)
    • low hairline

    Most children with Saethre-Chotzen syndrome are of normal intelligence.

    A team approach to Saethre-Chotzen syndrome

    The Craniofacial Anomalies Program at Boston Children's Hospital provides a team approach to the evaluation, diagnosis and treatment of children and adults with congenital or acquired facial deformities. If your child has been suffering from Saethre-Chotzen syndrome, our doctors can help.

    Expert team

    Our program is staffed by an experienced team of clinicians, all with specialized training in the care of children with craniofacial anomalies.

    Each year we treat more than 500 patients, 250 of them new patients, making our program one of the most experienced programs of its type in the country.

  • In-Depth

    What causes Saethre-Chotzen syndrome?

    Saethre-Chotzen syndrome is the result of an inherited gene or, less commonly, a genetic mutation.

    How common is Saethre-Chotzen syndrome?

    Saethre-Chotzen syndrome occurs in about 1 in 25,000 to 50,000 babies.

    • If one parent has Saethre-Chotzen syndrome, there is a 50 percent chance that the child will be born with the disorder.
    • Unaffected parents who have one child with Saethre-Chotzen syndrome rarely give birth to a second child with the condition

    What symptoms might my child have?

    In addition to the physical characteristics common to the condition, your child may experience growth delays, leading to less than average adult height.

    If your infant has this condition, you or your child's physician may notice changes in the shape of the head and face. The appearance of your child's face may not be the same on both sides.

    Other symptoms your child may have include:

    • a full or bulging fontanelle (soft spot located on the top of the head)
    • sleepiness (or less alert than usual)
    • scalp veins may be very noticeable
    • increased irritability
    • high-pitched cry
    • poor feeding
    • projectile vomiting
    • increasing head circumference
    • seizures
    • bulging eyes and an inability to look up with the head facing forward
    • developmental delays
  • Tests

    How is Saethre-Chotzen syndrome diagnosed?

    Your child's doctor can typically diagnose Saethre-Chotzen syndrome at birth by the physical signs.

    Diagnostic tests that may be performed to confirm the diagnosis include:

    • X-ray - A diagnostic test that uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs on film.
    • Computerized tomography scan (Also called a CT or CAT scan) - A CT scan shows detailed images of any part of the body, including the bones, muscles, fat and organs. CT scans are more detailed than general x-rays.

    Your doctor can also use a blood sample to make a definitive genetic diagnosis.

  • What's the treatment for Saethre-Chotzen syndrome?

    Your child should be evaluated by members of an experienced interdisciplinary team. No single specialist can manage Saethre-Chotzen syndrome and its associated problems, as treatment usually involves many areas of specialty.

    Depending on the severity of the disorder, your child may require some or all of the following treatments:

    • surgery to re-shape the skull
    • surgery to repair nose or eyelids
    • surgery to separate webbed fingers or toes
    • regular eye exams with an ophthalmologist
    • hearing tests with an audiologist
    • speech therapy
    • orthodontics, to straighten teeth
    • orthopedics, to care for skeletal deformities

    Surgery

    Before surgery, your child's physician will explain the operation and may review "before and after" photographs of children who may have had a similar type of surgery.

    Following the operation, it is common for your child to have a turban-like dressing around his/her head. The face and eyelids may be swollen after this type of surgery. Your child is typically transferred to the intensive care unit after the operation for close monitoring.

    Problems after surgery may occur suddenly or over a period of time. Your child may have the following complications:

    • fever (higher than 101 degrees)
    • vomiting
    • symptoms of headache
    • irritability
    • redness and swelling along the incision areas
    • decreased alertness and symptoms of being tired

    These complications require prompt evaluation by your child's surgeon. Our team educates your family after surgery on how to best care for your child at home and outlines specific problems that require immediate medical attention.

    What's the long-term outlook for my child?

    After treatment, your child should go on to have a normal lifespan.

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