Stickler Syndrome

What is Stickler Syndrome?

Stickler's syndrome is a genetic condition that causes vision and hearing problems, as well as skeletal changes. It is most commonly diagnosed in infants and children.

The symptoms of Stickler syndrome

Symptoms of Stickler's syndrome can vary from person to person, and it is common for individuals to have only a few. The most common symptoms are:

  • cleft palate: a malformation that affects the palate and causes a crack;
  • face with a flat appearance and a small nose;
  • micrognathia: reduced dimensions of the lower jaw;
  • hearing loss and ear problems;
  • joint and bone problems;
  • myopia and retinal detachment are among the eye problems.


Subdivisions of Stickler Syndrome

There is debate about Stickler Syndrome, but most experts divide it into three types:

Type I

The Stickler syndrome type I (STL1) causes approximately 70% of reported cases and manifests as symptoms affecting the eye, ear, facial appearance, palate, and musculoskeletal system resulting from mutations in COL2A1 on chromosome 12q13.11. Type I Stickler syndrome is inherited autosomally.

Type II

STL2 is caused by mutations in the COL11A1 gene on chromosome 1p21. Type II Stickler syndrome patients have a milder phenotype than patients with Marshall syndrome, which also has COL11A1 mutations. Stickler type II patients are more likely to develop cataracts and more severe early-onset hearing loss than those with Stickler type I. These conditions are inherited in an autosomal dominant pattern.

Type III

Stickler syndrome type III (STL3) is the non-ocular form of Stickler syndrome, that is, it affects hearing and joints along with craniofacial dysmorphism without affecting the eyes. A mutation in the COL11A2 gene on chromosome 6p21.3 causes Stickler syndrome type III, and it is inherited in an autosomal dominant manner.

Stickler Syndrome causes

The Stickler Syndrome is caused by the mutation of a gene that is responsible for the formation of collagen, a fibrous protein that connects and supports tissues such as skin, muscle, and bone. In the case of this syndrome, the collagen responsible for the production of cartilage and the gelatinous substance inside the eyes is affected.

Is there a cure for Stickler's Syndrome?

There is no treatment for Stickler's syndrome, but some specific symptoms can be treated. Plastic surgery can be used to treat some symptoms associated with facial deformities, for instance. Similarly, changes in the ability to hear can be corrected by using hearing aids or cochlear implants.

Get support and advice

Book a free hearing test

Book now

Test your hearing online

Take the test

Find your nearest store

Find a store