What is Stickler syndrome?

What is Stickler syndrome?

Stickler syndrome is a genetic disorder that affects connective tissues primarily in the face, ears, eyes and joints. This hereditary condition causes distinctive facial abnormalities. It can lead to problems with vision, hearing and movement.

Doctors usually diagnose Stickler syndrome in babies and children. It is also known as Stickler dysplasia. It is related to Marfan syndrome, another connective tissue disease.

What are the risk factors for Stickler syndrome?

People who have a family member with Stickler syndrome are at a higher risk of having the disorder. In most cases, it is inherited. But in some people, a spontaneous genetic change causes it.

How common is Stickler syndrome?

Doctors diagnose Stickler syndrome in roughly 1 out of 7,500-9,000 newborns. It affects males and females equally.

What causes Stickler syndrome?

Stickler syndrome results from defects in the genes that form collagen (proteins that add flexibility and strength to connective tissue).

With these defects, collagen does not develop properly. In people with this disorder, the faulty genes mainly affect the collagen used to make cartilage in the body and the jelly-like substance inside the eyes.

What are the signs and symptoms of Stickler syndrome?

Symptoms of Stickler syndrome vary widely from person to person. It is rare for people to experience all of the features associated with the disorder.

Many children with the disorder share similar facial deformities. These include:

  • Cleft palate (split in the roof of a person’s mouth)
  • Flattened face with a small nose
  • Micrognathia (abnormally small and recessed lower jaw)

Other signs and symptoms of Stickler syndrome include:

  • Bone and joint problems including stiff or overly flexible joints and scoliosis (spine curvature)
  • Ear and hearing problems including hearing loss
  • Eye problems including severe nearsightedness and detached retina