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Home Saethre-Chotzen Syndrome
FlowerSaethre-Chotzen Syndrome
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Craniofacial Anomalies Program  
What is Saethre-Chotzen syndrome?
Saethre-Chotzen syndrome is a rare inherited disorder characterized by the following traits:
  • Irregular head growth
  • Droopy eyelids
  • Wide-set eyes
  • Beaked nose
  • Crossed eyes (strabismus)
  • Short fingers and /or toes (some may be fused)
  • Low hairline
Most children with Saethre-Chotzen syndrome are of normal intelligence.
What causes Saethre-Chotzen syndrome?
Some cases of Saethre-Chotzen syndrome are the result if an inherited gene.
What are the chances of having a child with Saethre-Chotzen syndrome?
Saethre-Chotzen syndrome occurs is approximately one in 25,000 to 50,000 births.

If one parent has Saethre-Chotzen syndrome, there is a 50 percent chance that his/her 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 problems are associated with Saethre-Chotzen syndrome?
In addition to the physical characteristics common to the condition, growth delays may occur, leading to less than average adult height.
How is Saethre-Chotzen syndrome diagnosed?
Saethre-Chotzen syndrome is usually diagnosed at birth by the physical signs.
How is Saethre-Chotzen syndrome treated?
Children with Saethre-Chotzen syndrome 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, a child with Saethre-Chotzen syndrome may require some or all of the following surgeries:

  • Surgery to re-shape the skull
  • Surgery to repair nose or eyelids
  • Surgery to separate webbed fingers or toes
Treatment may also include:
  • Regular eye exams with an ophthalmologist
  • Hearing tests with an audiologist
  • Speech therapy
  • Orthodontics, to straighten teeth
  • Orthopedics, to care for skeletal deformities
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