What is Saethre-Chotzen syndrome?

Saethre-Chotzen syndrome is a rare craniofacial abnormality that is closely related to Crouzon syndrome. The syndrome is characterized by craniosynostosis, bulging eyes, an underdeveloped mid-face, drooping of the upper eyelids, and a low set hairline.

What causes Saethre-Chotzen syndrome?

Saethre-Chotzen syndrome follows a similar genetic origin as Crouzon syndrome. It occurs in 1 in every 25,000 to 50,000 births. It can occur sporadically due to new gene mutations, occurring in individuals with no family history of the disorder. Saethre-Chotzen syndrome is inherited through an autosomal dominant pattern. This means that only one gene is necessary to express the condition, creating a 50/50 risk for each pregnancy.

What are the symptoms of Saethre-Chotzen syndrome?

Symptoms of Saethre-Chotzen syndrome include the following:

  • Craniosynostosis, usually of the lambdoid or coronal sutures
  • High forehead
  • Low set hairline
  • Droopy eyelids
  • Widely spaced and bulging eyes
  • Vision disturbances
  • Broad nasal bridge
  • Underdeveloped midface
  • High arched palate
  • Short stature
  • Heart defects
  • Hearing loss
  • Abnormalities of the vertebra

Treatment for Saethre-Chotzen syndrome:

Treatment for Saethre-Chotzen syndrome is usually multiple-staged surgery. At one year of age, the craniosynostosis is repaired. The mid-face is corrected at 5-7 years of age. Eye muscle surgery usually needs to be performed as well to assist with vision.

An individual with Saethre-Chotzen syndrome is followed closely by a number of healthcare professionals including an ophthalmologist, ENT, physical and occupational therapists, speech therapists, nutritionists, dentists, and orthodontists in order to address other symptomatology.

Individuals with Saethre-Chotzen syndrome typically have normal intelligence though some intellectual disability may be present. Life expectancy is normal.