Stickler syndrome is a connective tissue disorder, a genetic malfunction in the tissue that connects bones, eyes, and ears. This disorder is associated with problems of vision, hearing, bone & joint, facial and cleft palate.
Dr. Stickler first studied this syndrome at Mayo Clinic in 1965. His paper titled "Hereditary Progressive Arthro-Ophthalmopathy" associated the severe sight deterioration with joint changes. Other doctors continued the study and have redefined Stickler syndrome to how we know it today.There are several sight problems that may occur to Stickler patients. Common problems include near sightedness, astigmatism, and cataracts, which can be treated with glasses or surgery. More serious problems include the gel which fills the eye deteriorating, the retina deteriorating, eyes moving independent of each other, and glaucoma. Any of these serious problems can lead to blindness.The hearing loss suffered by those who are affected will affect either the middle or inner ear. Deafness can result in the extreme cases.Bone and joint problems consist of arthritis, abnormality to ends of long bones, vertebrae abnormality, curvature of the spine, hunchback, joint pain, knock knee, and double jointed. These will tend to worsen with age.Several facial features are common with Sticklers syndrome. Flat cheeks, flat nasal bridge, small upper jaw, pronounced upper lip groove, small lower jaw, and palate abnormalities are possible, all in varying degrees. 30-40% of patients with Pierre Robin sequence have Stickler syndrome.PRS (Pierre Robin Sequence)is characterized by a combination of three features, possibly due to the underdevelopment of the lower jaw. The lower jaw is abnormally small (micrognathia), the tongue is displaced downwards (glossoptosis), and there is an abnormal opening in the roof of the mouth (cleft palate). The tongue might have a tendency to ball up in the back of the mouth causing the airway to block and possible apnea.Many children with PRS have recurrent ear infections and end up needing tubes surgically placed. Some children have more than one tube surgery due to the tubes' tendency to fall out as the child grows. Your child needs to be watched closely for ear infections and hearing function. Hearing levels may fluctuate due to infections. An audiologist is an important part of the medical team and your child needs regular hearing checks.Other surgeries would include palate repair and possibly surgeries to enhance their speech. The cleft palate is typically a horseshoe shaped wide cleft. Once the cleft has been closed, many children progress with their speech abilities.Feedings are almost always an issue with PRS children. Many end up with g-tubes because they can't gain weight properly. Every child is different and will feed differently. There are several bottles available for cleft palate babies and you may go through a course of trial and error to find the correct one. The nipples may have to be adjusted by making the cuts longer to ease the feedings. Babies will have a tendency to wear out during feedings because they use so much energy to eat.Breathing issues are abundant with PRS children as well and until the breathing is controlled, the baby will have trouble gaining weight. Often, when the child cries it will keep the airway open. However, when the child relaxes or falls asleep, airway obstruction can occur. Sometimes positioning them on their stomach will help them, because it will force the tongue to fall forward and keep the airway open. Some teams use the tongue lip adhesion method to hold the tongue down. Other, more severe cases, require tracheostomies to aid in breathing until the jaw can grow out and allow a place for the tongue to go. Other babies don't need anything special to breathe. It really depends on the child, the size of the chin and the tongue. Some teams perform a jaw lengthening surgery to increase the size of the lower jaw allowing the tongue to "lay down" and thus avoiding the trach. These issues need to be discussed in detail with your child's medical team.Dental issues are very common in PRS children. The lower jaw sometimes does not grow to the same size as the upper jaw and the teeth are crowded. Many of these children go through orthodontics to correct teeth placement.Most school age children with PRS will require some speech therapy, especially to reduce nasality in their speech. The speech language pathologist will also work with them to correct bad habits. Make sure you request an evaluation if your school does not offer it.
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