Stickler Syndrome

gene mutation disordersWhat is Stickler Syndrome?

Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.

What causes Stickler Syndrome?

Mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes cause Stickler syndrome types I through V, These genes are involved in the production of three types of collagen: type II, type IX, and type XI. Mutations in any one of these genes impair the production, processing, or assembly of type II, type IX, or type XI collagen. Defective collagen molecules or reduced amounts of collagen disrupt the development of connective tissues, leading to the characteristic features of Stickler syndrome.

Characteristics of Stickler Syndrome

  • flattened facial appearance
  • opening in the roof of the mouth
  • a tongue that is placed further back than normal (glossoptosis)
  • small lower jaw (micrognathia)

* These symptoms may cause troubles with eating and breathing.

  • nearsightedness (high myopia)
  • increased pressure within the eye (glaucoma)
  • tearing of the lining of the eye (retinal detachment)
  • hearing loss

* Some of these issues may lead to blindness and deafness.

  • skeletal abnormalities that affect the joints
  • loose and very flexible joints (hypermobile)
  • problems with the bones of the spine
  • abnormal curvature of the spine (scoliosis or kyphosis)
  • flattened vertebrae (platyspondyly)

* These problems may lead to back pain and deformities.

Source: This information was obtained from: Genetics Home Reference

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