One form of Stickler syndrome is due to mutation in the COL2A1 gene on chromosome 12 in region 12q13.11-q13.2. It is termed Stickler syndrome, type I and symbolized STL1. (It is alternatively known as Vitreous type Stickler syndrome; Membranous vitreous type Stickler syndrome; and Hereditary progressive arthroophthalmopathy or AOM.)
A second form of Stickler syndrome is caused by mutation in the COL11A1 gene on chromosome 1 in region 1p21. It is termed Stickler syndrome, type II and symbolized STL2. (It is alternatively known as Vitreous type 2 Stickler syndrome; and Beaded vitreous type Stickler syndrome.)
A third form of Stickler syndrome is caused by mutation in the COL11A2 gene on chromosome 6 in region 6p21.3. It is termed Stickler syndrome, type III and symbolized STL3. The eyes are normal in this type of the syndrome. (It is alternatively known as Nonocular type Stickler syndrome).
There is evidence for the existence of at least one additional form of Stickler syndrome.
The syndrome is named for the German-American pediatrician Gunnar B. Stickler (1925-).
Alternative names for the Stickler syndrome include David-Stickler syndrome, hereditary progressive arthro-ophthalmopathy, and hereditary arthroophthalmopathy.
- Stickler, Gunnar B.
German-American pediatrician Gunnar B. Stickler (1925-) who first described the genetic disorder of collagen known today as Stickler syndrome. After graduating in medicine in Munich, Dr. Stickler emigrated in 1951 to the USA. He worked for many years at the Mayo Clinic in Rochester, Minnesota where he saw a 12-year-old boy with bony enlargement of […]
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