Stickler syndrome, type i, nonsyndromic ocular
What is Stickler syndrome?
Stickler syndrome is a genetic condition caused by a change (mutation) in genetic information that leads to abnormal development of connective tissue throughout the body. Connective tissue is an important part of many multiple organ systems. The specific health problems present in Stickler syndrome often are different from one individual to another and all of the symptoms may not occur in one person. Stickler syndrome is characterized by specific facial features, a hole in the roof of the mouth (cleft palate), eye and vision problems, hearing loss, and joint issues.
People with Stickler syndrome also may have a flat face with completely flat cheekbones, extreme nearsightedness (myopia), cataracts and problems with the lining on the eye which can cause poor vision. Joint problems can include loose or very flexible joints as well as curving of the spine and flat spine bones.
Sometimes medical issues can be more complicated because of development before birth. This combination of medical issues is called Pierre Robin sequence. These features include an opening in the roof of the mouth (cleft palate), a small chin, and a small tongue. This interferes with feedings and breathing.
There are at least 6 types of Stickler syndrome (numbered I-XI) which each have slightly different symptoms, run through families in specific patterns, and are caused by different gene changes.
Stickler Syndrome. (2013). U.S. National Library of Medicine. http://ghr.nlm.nih.gov/condition/stickler-syndrome
Jones, K. Stickler syndrome. In: . 6th edition. Philadelphia, PA: Elsevier Saunders; 2006: 318-319.