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What is the Stickler syndrome ?
Read about
Ha-Joint-Formula presented in simple easy to understand language |
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Stickler's syndrome is a genetic, progressive
connective tissue disorder. It typically affects the eyes, ears, bones, joints
and face. This condition occurs because of a genetic mutation that alters the
functioning of collagen, a fibrous protein in the connective tissues. Collagen
fibers give connective tissues - skin, tendons, ligaments, cartilage, and organ
and blood vessel walls - their strength and elasticity. The genetic defect is
autosomal dominant, which means that the child of a parent with the abnormal
gene has a 50 percent chance of inheriting it. But in a few cases, the gene
defect is the result of a spontaneous mutation.
Stickler syndrome derives its name from Dr. G. B. Stickler, who first studied
and documented the syndrome in 1965. It is also known as Stickler dysplasia or
hereditary progressive arthro-ophthalmopathy. Stickler syndrome affects an
estimated 1 in 10,000 people.
Stickler's syndrome has a range of signs and
symptoms, including:
Eyes Common problems include
nearsightedness, astigmatism and cataracts. More serious problems include
retinal detachment, glaucoma and blindness.
Bones and joints Common problems
include arthritis, vertebrae abnormality, curvature of the spine, joint pain,
knock knee, and double jointed. All these symptoms tend to worsen with age.
Mouth Symptoms include cleft palate,
high arched palate, and bifid uvula micrognathia where the lower jaw is
shorter than the other resulting in poor contact between the chewing surfaces of
the upper and lower teeth. These symptoms are similar to those found in Pierre
Robin sequence.
Facial Characteristics A flat face
with a small nose and little or no nasal bridge.
Ears Possible hearing loss with
deafness resulting in extreme cases.
Other symptoms These may include
curvature of the spine (scoliosis), mitral valve prolapse and because of sight
and hearing problems, some learning difficulties may be experienced.
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Patients usually do not have all the
symptoms attributed to Stickler syndrome. A clinical diagnostic
criteria has not been established for this syndrome but the presence
of any two or more of the following criteria could signal the presence
of the syndrome:
Ophthalmologic -
Congenital or early-onset cataract, myopia greater than -3, congenital
vitreous anomaly, retinal detachment.
Craniofacial - Midface
hypoplasia, depressed nasal bridge in childhood, tipped or bent nasal
cavity openings, split uvula, cleft hard palate, and Pierre-Robin
sequence.
Audiologic - Hearing
loss.
Joint - Hypermobility,
mild spondyloepiphyseal dysplasia, precocious osteoarthritis.
Like the other connective tissue disorders, there is no cure for
Sticklers syndrome. Treatment is focused on managing the signs and
symptoms and may include:
Laser surgery for retinal detachment
Surgical repair of a cleft palate
Corrective dentistry of the small jaw
Joint surgery
Hearing aids
Walking aids
Genetic counseling
Avoiding activities that may lead to traumatic retinal detachment
such as contact sports
Regular ophthalmologic and audiologic check-ups
Over-the-counter anti-inflammatory medications for joint pain |
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