Stickler Syndrome
- What is Stickler syndrome?
- How much experience do you have treating Stickler syndrome?
- Who gets Stickler syndrome?
- What does a baby with Stickler syndrome look like?
- How is Stickler syndrome treated?
- How are infants with Pierre Robin sequence due to Stickler syndrome treated?
What is Stickler syndrome?
Stickler syndrome is a genetic disorder of connective tissue that results in variable problems with vision, hearing and facial and skeletal development.
Connective tissue, made up of collagen, acts like glue or an elastic band and allows muscles to stretch and contract.
A syndrome is a disease or disorder that has more than one identifying feature or symptom. Stickler syndrome often affects the connective tissue of the eye, especially in the vitreous humor (interior of the eyeball), and the epiphysis (ends of the bones that make up the joints).
Dr. G. B. Stickler first described this condition in 1965.
People with Stickler syndrome typically do not have intellectual impairment.
How much experience do you have treating Stickler syndrome?
Our craniofacial team is experienced in treating children with cleft palate (an opening in the roof of the mouth) and Pierre Robin sequence (cleft palate and very small jaw with a small tongue) due to Stickler syndrome.
About 33 children with PRS are treated by the craniofacial team each year; one-third of these children are diagnosed with Stickler syndrome.
Who gets Stickler syndrome?
Stickler syndrome is caused by a genetic change or mutation in one of three collagen genes (COL2A, COL11A1 and COL11A2). Collagen genes provide instructions for the body to make collagen proteins for the body's connective tissue.
Stickler syndrome is an autosomal dominant condition, meaning only one parent needs to have an abnormal gene for the child to inherit the disease.
A person with Stickler syndrome has a 50% chance for each pregnancy of passing this mutation on to the child.
For some people, the Stickler syndrome gene mutation is inherited from a parent.
For others, no one else in the family has a diagnosis of Stickler syndrome and the condition occurred because of a new change in one of the genes that cause Stickler syndrome.
Genetic testing for mutations in the Stickler syndrome genes is available for only two known genetic causes. Genetic counseling before testing is recommended.
What does a baby with Stickler syndrome look like?
The facial features of babies with Stickler syndrome vary significantly.
Some babies with Stickler syndrome are born with Pierre Robin sequence, and have prominent eyes due to shallow eye sockets, a flat nasal bridge and flat cheekbones.
Other babies have minor differences such as a flattened nasal bridge and cheekbones without cleft palate.
The abnormal facial features of a child with Stickler syndrome typically become less apparent as they grow older. Other features of infants and children with Stickler syndrome can include short stature, long thin arms and legs and occasionally clubfeet.
Eyes
The vision problems in Stickler syndrome include early onset of severe myopia (nearsightedness) with an increased risk to develop a retinal detachment.
Sometimes, children with Stickler syndrome have glaucoma or cataracts. These children often require glasses for nearsightedness at a very early age.
Hearing
Hearing problems can be detected in 40 to 60% of people with Stickler syndrome.
Often the hearing loss occurs later in life and is a high-tone hearing loss that often goes unnoticed. Conductive (bone) hearing loss may occur in children with cleft palate due to middle ear fluid, which can be treated by placement of ear tubes.
Most of the time, the hearing loss in children with Stickler syndrome is mild and hearing aids are not needed.
Joints
Skeletal problems include hypermobile (flexible) joints in infants and young children, joint stiffness in later childhood and adulthood and early onset of arthritis in 30% of adults between 30 and 40.
Short stature is noted in 25%, whereas other persons with Stickler syndrome have relatively long arms and legs.
About 10% of children will develop scoliosis (curvature of the spine) and sometimes infants are born with clubfoot deformity.
Mouth
About 20% of children with Stickler syndrome are born with cleft palate.
Some infants with Stickler syndrome are born with Pierre Robin sequence (PRS). Because one-third of infants with PRS have Stickler syndrome, all children with PRS should be evaluated for the additional features of Stickler syndrome.
Infants with severe PRS may have difficulty breathing because of the small jaw. A nasal airway (a small tube passed through the nose) or tracheostomy (breathing tube placed in the windpipe) may be required temporarily to provide a safe airway.
How is Stickler syndrome treated?
Eyes
All infants and children with Stickler syndrome should be evaluated and followed on a regular basis by an ophthalmologist (doctor who treats eyes).
A careful evaluation for cataracts and glaucoma is recommended. Regular eye visits are needed to check for early signs of retinal detachment, which can lead to blindness if not treated. Not playing contact sports may be advised.
Hearing
Children with cleft palate due to Stickler syndrome require close follow-up of hearing for both middle ear dysfunction, which can result in conductive (bone) hearing loss, and progressive high-tone nerve hearing loss.
Joints
The bone and joint concerns in childhood typically include increased joint hypermobility and occasional joint stiffness.
Infants with Stickler syndrome born with clubfoot deformity should be referred to a pediatric orthopedist.
All children with Stickler syndrome should be clinically evaluated for scoliosis.
Later in life, treatment for adult arthritis includes pain relief, avoidance of high-impact physical activity and joint replacement as needed.
Mouth
The cleft palate is typically repaired between 9 and 12 months of age by a team surgeon to allow the child to learn to speak normally.
Ongoing assessment of speech and language, dental development and jaw growth as part of regular cleft care is recommended.
As with other infants with cleft palate, early treatment includes feeding evaluation and use of a cleft nipple or bottle.
How are infants with Pierre Robin sequence due to Stickler syndrome treated?
Infants with Pierre Robin sequence due to Stickler syndrome are treated the same way as other babies with PRS.
Careful evaluation of breathing and feeding is very important. Some babies with Pierre Robin sequence can be positioned on their belly so that they do not snore or block their airway.
Other babies have such a small jaw that a tube must be placed in their nose to allow them to breathe easier, and some infants must have a surgical tracheostomy (a breathing tube placed in the windpipe).
Infants with Pierre Robin sequence often have a hard time taking all of their nutrition by bottle because of breathing problems.
Sometimes a feeding tube from the nose to the stomach is needed. If the feeding tube is needed for many months, often parents will choose to have a surgical gastrostomy tube (through the abdominal wall to the stomach) placed.
Often infants with Pierre Robin sequence do not have their cleft palate repaired until they are 15 to 18 months old so their jaw has more time to grow.
Some children with Pierre Robin sequence may have the option of surgery to move the lower jaw forward.
This can be done through a single surgery known as mandible osteotomy or over a period of several months through distraction osteogenesis, a technique that uses a device to pull the jaw slowly forward.