What is Stickler syndrome?
Stickler syndrome is a hereditary condition affecting the collagen (connective tissue) manifesting itself during childhood. Stickler syndrome is believed to be caused by one of three possible genetic defects in chromosome one, six or 12, respectively. It is estimated that one person in 7,500-9,000 is affected by Stickler syndrome. Many are assumed to be suffering from the condition but have not been diagnosed. The risk of the syndrome being passed on from parents with Stickler syndrome to their children is estimated at 50 percent.
Symptoms of Stickler syndrome
Symptoms of Stickler syndrome include:
- Facial features, such as a flat face with a small nose and chin.
- Hearing loss
- Early joint disease
- Cleft palate
- Mitral valve prolapse
The severity and number of symptoms vary from case to case. Some Stickler syndrome symptoms may not be present at birth but may occur later.
The hearing loss associated with Stickler syndrome emanate from the inner ear. Deafness can result in the extreme cases.
No cure is available for Stickler syndrome, and continuous monitoring by ear nose and throat, eye, heart or other specialists is essential in order to provide treatment of symptoms, including with hearing aids when appropriate.
Source: www.sticklers.org/sip/def.html (Sticklers Involved People) + http://ghr.nlm.nih.gov/condition=sticklersyndrome