Last Updated: September 11, 2017

Stickler Syndrome

Overview

Stickler syndrome is a progressive genetic disease of the connective tissue that causes abnormalities with vision, hearing and skeletal development. The name comes from Dr. G. B. Stickler, who initially described the condition in 1965. It is mostly diagnosed during infancy or childhood, and is usually not tied to learning or other intellectual disabilities. Patients with Stickler syndrome may suffer from hearing loss, retinal detachments and loose joints. Poor facial development can also result in a flat-looking face with a small nose and chin. Children can also develop features of Pierre Robin sequence, which include a cleft palate (opening in the roof of the mouth), an enlarged tongue and a shrunken lower jaw. There is no cure for Stickler syndrome, but treatment is available for managing the symptoms.

Causes and Risk Factors

illustration of cleft palate

Stickler syndrome is caused by a genetic error, or mutation, in genes that produce collagen - the building blocks of connective tissue. The three main collagen genes associated with this condition are COL2A1, COL11A1 and COL11A2, which carry the genetic instruction for producing collagen for the eye and joints.

Stickler syndrome is inherited as an autosomal dominant condition. This means anyone with Stickler syndrome has a 50% chance of passing down the disease to each of his or her offspring. A less common, autosomal recessive form of the disease is associated with the COL9A gene. In this case, a child must inherit two mutated copies of the gene, one from each parent, to develop Stickler syndrome. These genes do not account for every form of Stickler syndrome, and some first-time cases are due to a random gene mutation that is not present in either parent.

Symptoms

The symptoms of Stickler syndrome vary. Even affected members in the same family can experience symptoms with varying severities. Known symptoms include:

Diagnosis and Treatment

Stickler syndrome is diagnosed based on a physical exam and a review of the patient’s medical history. Genetic tests are also available to detect mutations in some collagen-producing genes.

Although there is no cure for Stickler syndrome, the symptoms can be managed with treatment. Early treatment and continuous monitoring in young children is critical in order to prevent blindness, deafness, difficulty breathing or eating, and other complications.

Prevention

Stickler syndrome is an inherited condition and cannot be prevented. Genetic screening can help affected adults assess disease risk to their offspring. Early diagnosis and treatment is key to preventing serious complications.

Sources

Additional Resources

Home Health Testing Guides

Testing Company Reviews

Related Topics

Authored by: Tina Shahian, PhD