Saethre-Chotzen Syndrome Symptoms & Causes

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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
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