What is Stickler syndrome?

Stickler syndrome is a genetic condition that affects the formation of the connective tissue collagen. It can affect multiple parts of the body including the eyes, face, ears, heart, bone, and joints.

What causes Stickler syndrome?

Stickler syndrome occurs in 1 in 7,500 to 9,000 births. It can occur sporadically due to new gene mutations, occurring in individuals with no family history of the disorder. Stickler syndrome is inherited through an autosomal dominant pattern. This means that only one gene is necessary to express the condition, creating a 50/50 risk for each pregnancy.

What are the symptoms of Stickler syndrome?

Symptoms of Stickler syndrome include the following:

  • Underdeveloped mid-face creating a flattened facial appearance
  • Large tongue
  • Cleft palate
  • Small lower jaw
  • Hearing and vision disturbances
  • Feeding and breathing problems
  • Hypermobility of joints
  • Arthritis
  • Curvature of the spine

Treatment for Stickler syndrome:

An individual with Stickler syndrome is followed closely by a number of healthcare professionals including an ophthalmologist, ENT, rheumatologist, physical and occupational therapists, speech therapists, nutritionists, dentists, and orthodontists. Surgical repair of the cleft palate is done at age 1.