HaJointFormula.com  

HA-Joint-Formula

Ha-Joint-FormulaHa-Joint-Formula

What is the Stickler syndrome ?
Read about Ha-Joint-Formula presented in simple easy to understand language

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.

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 Stickler’s 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

Copyright ©  Ha-Joint-Formula  More-Resources  Add-URL  Submit-URL  Sitemap