Stickler Syndrome


"Our specialists, such as geneticists, plastic surgeons, otolaryngologists, orthopedic surgeons and ophthalmologists, have extensive experience helping children with Stickler syndrome. And we're very involved in researching the best new treatments for this condition."

Joan M. Stoler, MD, Children's clinical geneticist

Some medical conditions are easy to identify. If your child has a broken leg, for example, it’s pretty obvious. Other conditions, like Stickler syndrome, can be much more complicated to identify and treat.

Stickler syndrome is a relatively common congenital (present at birth) condition that affects the formation of a connective tissue called collagen.

  • It’s caused by a mutation (change) in one of the genes in charge of collagen formation.
  • Stickler syndrome is present at birth but, depending on the severity of your child’s symptoms, may not be diagnosed immediately.
  •  It can affect multiple parts of your child’s body, including his or her eyes, face, ears, heart, bones and joints.
  • It’s often misdiagnosed (or undiagnosed because of the mildness of the symptoms), but about one in 7,500 people in the United States and Europe have Stickler syndrome.
  • Children with Stickler syndrome have abnormal collagen, which can lead to problems with their eyes, hearing, joints and facial features.
  • It’s the most common cause of retinal detachment (which can cause blindness if left untreated) in children.
  • Stickler syndrome is a progressive disorder, so the symptoms are likely to become more severe as your child ages.
  • There’s no cure, but it’s a manageable condition, and most children go on to lead full, healthy lives.

How Children’s Hospital Boston approaches Stickler syndrome

While there’s no cure for Stickler syndrome, we have many methods of managing your child’s symptoms — and helping your child live a healthy, productive life. At Children’s, we take a multidisciplinary approach that focuses on the whole child, not just his condition—that’s one reason we’re frequently ranked as a top pediatric hospital in the United States.

We specialize in innovative, family-centered care. From your first visit, you’ll work with a team of professionals who are committed to supporting all of your family’s physical and psychosocial needs.

What makes Children's different?

We’re known for our science-driven approach — we’re home to the most extensive research enterprise located in a pediatric hospital in the world, and we partner with a number of top biotech and health care organizations—but our physicians never forget that your child is a child, and not just a patient.

Stickler syndrome: Reviewed by Joan M. Stoler, MD
© Children’s Hospital Boston, 2011