Stickler Syndrome

What is Stickler syndrome?

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.
  • Depending on the severity of your child’s symptoms, it 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.
  • 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.

What are the symptoms of Stickler syndrome?

Stickler syndrome affects different children in different ways. One child could have a mild form of the syndrome with just a few symptoms that may be so mild that they go undiagnosed or never need treatment. Another child may have most of the symptoms listed below. Here are some of the more common symptoms of Stickler syndrome, organized by the part of your child’s body they affect:

Vision and eye health

  • myopia (nearsightedness) — can sometimes be extreme
  • retinal detachment (retina separates from the back of the eye) — if left untreated, it can cause blindness
  • cataracts (clouding of the eye lens)
  • astigmatism (cornea or lens not spherical)
  • vitreous degeneration (the gel within the eye liquefies and pulls away from the retina)
  • crossed eyes (strabismus)
  • glaucoma (elevated eye pressure) — if left untreated, glaucoma can cause blindness

Hearing and ear health

  • inner ear hearing loss — over time, this hearing loss can become more severe and eventually lead to deafness
  • frequent ear infections

Joints and bones

  • joint pain/enlarged joints
  • osteoarthritis (degenerative joint disease) — in very severe cases, knee or hip replacement surgery may be necessary
  • loose joints that are abnormally flexible
  • knock knees (Genu valgum)
  • scoliosis (curvature of the spine)
  • Legg-Calve-Perthes disease (hip degeneration)

Facial features and mouth

  • flat cheeks and nasal bridge (most noticeable in infants)
  • small jaw
  • palate abnormalities/obstructed airway
  • split uvula (the tissue that hangs down in the back of the throat is divided)
  • orthodontic issues
  • Pierre Robin sequence (small jaw, cleft palate, tongue placement abnormalities, and breathing and feeding problems)

What causes Stickler syndrome?

Stickler syndrome is caused by a mutation in one of the genes in charge of collagen formation. Collagen is a type of fibrous protein that connects and supports other tissues like skin, muscle and bones. It’s sometimes referred to as the “glue” that holds the body together.

Most cases of Stickler syndrome are inherited in an autosomal dominant manner, which means that a child needs to have only one abnormal copy of the responsible gene to be affected. Each of us has two copies of each gene (with the exception of those genes on the X chromosome in boys).

If a child has Stickler syndrome, the risk for a subsequent sibling to have Stickler syndrome depends upon whether one of the parents is affected. If one of the parents is also affected, there’s a 50 percent chance that the next child will also have it. If neither parent has Stickler syndrome, the risk to have another child with Stickler syndrome is thought to be low. If you have Stickler syndrome yourself and want to have children, consider discussing your family plans with a genetic counselor who can help you understand the implications of the syndrome for your children.

When should we see a doctor?

While the symptoms of Stickler syndrome are generally not life threatening, your child may be at a higher risk for retinal detachment, a condition that can cause blindness if left untreated.

You should contact an eye specialist if your child has any of the following symptoms:

  • blurry vision
  • flashes of light in the eyes
  • a shadow over a portion of the field of vision
  • increase in the tiny bits of debris that float in the eye

How we care for 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.

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