Chromosomal and Genetic Conditions
Stickler Syndrome Symptoms and Diagnosis
Symptoms of Stickler Syndrome
The facial features of babies with Stickler syndrome vary significantly.
Some babies with Stickler syndrome are born with Pierre Robin sequence (PRS), 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.
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 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.
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.
About 20% of children with Stickler syndrome are born with cleft palate.
Some infants with Stickler syndrome are born with 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.
Stickler Syndrome Diagnosis
To diagnose this condition, your doctor will examine your child carefully. They will examine your child's face, head, mouth and joints, and may perform tests to check your child's eyes and hearing.
Your doctor may also do genetic tests that show whether your child has a mutation that causes Stickler syndrome or another disorder that causes similar problems. Genetic counseling before testing is recommended.