Stickler syndrome


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.

Read Also:

  • 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 […]

  • Stiff baby syndrome

    A genetic disorder also known as hyperexplexia in which babies have an exaggerated startle reflex (reaction). This disorder was not recognized until 1962 when it was described by Drs. Kok and Bruyn as a disease with the onset at birth of hypertonia (stiffness), exaggerated startle response, strong brain-stem reflexes (especially head-retraction reflex) and, in some […]

  • Still's Disease

    Arthritis, systemic-onset juvenile rheumatoid.

  • Stillbirth

    The birth of a dead baby, the delivery of a fetus that has died before birth for which there is no possibility of resuscitation. The distinction between a stillbirth and a miscarriage is arbitrary. The dividing line has variously set at 20 to 24 weeks of gestation or at a specific weight, such as 500g. […]

  • Sting, Africanized bee

    All stings from bees (and other large stinging insects such as yellow jackets, hornets and wasps) can trigger allergic reactions varying greatly in severity. Avoidance and prompt treatment are essential. This is surely so with Africanized honey bees, a special species of honey bees that are reportedly moving into the United States from the south. […]


Disclaimer: Stickler syndrome definition / meaning should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional. All content on this website is for informational purposes only.