Stickler Syndrome

What is Stickler syndrome?

Stickler syndrome refers to a group of hereditary conditions that are characterized by a distinctive flattened or scooped out facial appearance and receding chin caused from the bones in the middle of the face being underdeveloped, as well as prominent eyes and eye abnormalities, hearing loss, and joint problems. In addition, children with Stickler syndrome often share a particular group of physical features called Pierre Robin sequence. These features include a cleft palate, a small lower jaw, and a tongue that is placed further back than normal.

What causes Stickler syndrome?

Stickler syndrome is caused by mutations in the genes that are involved in the formation of collagen, which is one of the building blocks of many types of connective tissues. Due to the autosomal dominant nature of these mutations, a family history of Stickler syndrome is a risk factor for developing the condition.

What are the symptoms of Stickler syndrome?

The most obvious signs of Stickler syndrome are the characteristic physical features of the disease and of the Pierre Robin sequence. These physical traits can also cause feeding problems and difficulty breathing, as well as severe nearsightedness, glaucoma, cataracts, and retinal detachment. In severe cases, these eye abnormalities can even cause impaired vision or blindness. Hearing loss in Stickler syndrome is characterized by an inability to hear high frequencies, and the symptoms of joint problems in Stickler syndrome include arthritis early in life, vertebrae problems such as scoliosis, and back pain.

How is Stickler syndrome diagnosed?

Stickler syndrome can often times be diagnosed just based on a medical history and family exam, but to confirm a diagnosis and determine the severity of the condition, additional tests can be used. These tests may include x-rays to reveal join problems, eye exams, and hearing tests. Genetic testing is also able to assist in diagnosis in some cases.

What are the available treatments for Stickler syndrome?

Even though there is no cure for Stickler syndrome currently available, treatment options are available to help control symptoms and prevent additional complications from the disease. These options include:

• Speech therapy, physical therapy, and special education
• Orthodonture
• Hearing aids or corrective eye lenses
• Tracheostomy, jaw surgery, or cleft palate repair
• Spinal bracing

Where can I find more information on Stickler syndrome?

• U.S. National Library of Medicine
• Mayo Clinic
• National Organization for Rare Disorders (NORD)