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Mandibulofacial Dysostosis

 

Mandibulofacial Dysostosis or Treacher-Collins Syndrome is a rare genetic disorder causing various head and neck deformities.

Causes

  • Genetic mutation
  • Autosomal dominant inheritance

Symptoms

  • Underdeveloped cheek or jaw bones
  • Wide distance between eyes
  • Downward slanting eyes
  • Deformed lower eyelid
  • Absent eyelashes
  • Cleft palate
  • Teeth problems
  • Lack of external ear
  • Lack of hearing
  • Respiratory problems

Treatment
There is no specific treatment for mandibulofacial dysostosis. Correction of symptoms may include:

  • Surgical construction of the external ear
  • Hearing aids
  • Dental correction
  • Plastic surgery

Prevention
There is no way to prevent this syndrome.