Stickler syndrome

What is Stickler syndrome?

Stickler syndrome is a congenital (from birth) disorder that affects the production of collagen in the connective tissue. Connective tissue is what holds the body together - in the joints, tendons, muscles, bones, organs and skin. Collagen proteins are important in keeping the connective tissue in the joints and organs strong and healthy.

What are the signs and symptoms of Stickler syndrome?

Children with Stickler syndrome may have mild or severe symptoms, depending on the type. Stickler syndrome is a progressive disorder, so your child’s symptoms will become more noticeable or severe as they age.

The signs of Stickler syndrome may include:

• Arthritis 

• Cleft palate (a split in the roof of the mouth)

• Eye problems, including: cataracts, glaucoma and retinal detachment

• Extreme nearsightedness

• Face that appears flat

• Hearing problems

• Kyphosis (forward rounding of back)

• Overly flexible joints (loose joints)

• Problems with bones and joints

• Pierre Robin sequence (small jaw and tongue far back in mouth)

• Scoliosis

• Small lower jaw

What are the causes of Stickler syndrome?

Stickler syndrome is caused by gene mutations that occur while a child is developing in their mother’s womb that affect the production of collagen in a child’s body.