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