Stickler Syndrome

Heritable Disorder

Signs and Symptoms

  • Prominent eyes
  • Small nose with a scooped out facial appearance
  • Receding chin

Pathogenesis

Affected collagen

Diagnosis

  • Imaging tests
  • Eye exams
  • Hearing tests
  • Genetic testing

Management

There is no cure for Stickler syndrome, but there are treatments for the symptoms that include:
  • Pain relievers
  • Glaucoma drugs
  • Speech therapy
  • Physical therapy
  • Hearing aids
  • Special Education
  • Tracheostomy
  • Jaw surgery
  • Cleft palate repair
  • Ear tubes
  • Eye surgeries
  • Joint replacements

Prognosis

The disease will continue to worsen it's symptoms unless otherwise treated. If treated, those who suffer from the disease can live a normal, healthy life.

Epidemiology

The disease is relatively inherited by either parent who carries the gene