Stickler Syndrome

Stickler Syndrome Causes

The syndrome is caused by a mutation in the genes responsible for producing collagen, which helps build connective tissue. Most often, Stickler syndrome affects collagen in the eyes and joints.

Stickler Syndrome Symptoms

As Stickler syndrome affects the production of collagen, any part of a child's body that relies on collagen can be affected.

Many children with Stickler syndrome also have underdeveloped facial features, such as micrognathia (a small retruded lower jaw), cleft palate or submucous cleft palate, or Pierre Robin Sequence.

Because Pierre Robin Sequence, cleft palate, and micrognathia often present alongside Strickler syndrome, early diagnosis is important to treat airway obstruction or obstructive sleep apnea and feeding and swallowing issues.

Other symptoms include:

• Eye problems, such as nearsightedness, glaucoma, detached retinas, and cataracts.
• Hearing loss.
• Skeletal malformations.
• Joint problems, such as arthritis and loose joints.

Stickler Syndrome Diagnosis

In some cases, diagnosis occurs shortly after birth. Other times, depending on the severity of symptoms, it can take longer to diagnose.

A doctor can usually diagnose the syndrome by observing a child’s facial features and seeing if they have any of the specific symptoms of the disorder. Workup may include a physical exam and vision and hearing tests. In some cases, the doctor may recommend x-rays of your child’s joints. To confirm the diagnosis, a blood draw will be done and genetic testing will be performed.

Though many of the symptoms of Stickler syndrome aren’t life-threatening, it’s important to receive appropriate evaluation and treatment. If left untreated, some symptoms can cause further complications later in a child's life. For instance, if a child's retina becomes detached, it can lead to blindness.

If the child is born with a small, retruded lower jaw and has difficulty breathing and eating they may have Pierre Robin Sequence as one of their problems. When a child has a small, retruded jaw, it can result in breathing issues or airway obstruction from the tongue being back too far in the throat. If this is present, a multidisciplinary team of airway and feeding specialists is involved in choosing appropriate testing and interventions. Testing may include:

• An airway endoscopy.
• A sleep study.
• A swallowing study.
• A CT scan of the facial structures.

Surgical procedures are recommended based on the severity of breathing and swallowing issues and may include:

• Mandibular distraction osteogenesis.
• Tongue lip adhesion.
• Supraglottoplasty.
• Gastrotomy or feeding tube.

If the child has a cleft palate, they will need to undergo palate repair at approximately 9-14 months of age. Ear tubes may be necessary if the individual has issues with middle ear fluid and ear infections.

Other treatments for Stickler syndrome can include:

• Physical therapy if the child's joints are affected.
• Speech therapy.
• Potential surgical interventions.

If your child has hearing loss, comprehensive hearing testing by an audiologist will be required and there is the potential benefit of hearing aid use. And if their eyes or limbs are affected, eyeglasses or contact lenses and leg or arm braces may also be necessary.