What is Stickler Syndrome?
Stickler syndrome, otherwise known as hereditary progressive arthro-ophthalmopathy, is a collection of hereditary disorders which affects the connective tissues characterized by characteristic facial irregularities, serious eye problems, loss of hearing and joint problems. It was named after Dr. Gunnar B. Stickler, the pediatrician who first described this sex independent autosomal dominant condition in medical literature.
Stickler is believed to occur from genetic mutations of a number of collagen genes all through fetal development. Collagen is a naturally occurring fibrous protein which supports the internal structures of the body. The types of collagen mostly involved in the disorder are the cartilage and the vitreous types, the former is the tissue which cushions the bones within joints and the latter which is a thick fluid the fills the center of the eyes.
Affected individuals frequently have distinct facial characteristics such as prominent eyes, flattened facial structures with small nose, flat nasal bridge, receding chin and Pierre Robin sequence. They may also suffer eye disorders like severe nearsightedness, cataracts, glaucoma and retinal detachments. Hearing difficulties may include inability to hear high frequency sounds. Bones and joints of the affected individuals; they may have excessive joint flexibility, premature osteoarthritis, long fingers, enlarged knuckles, and scoliosis.
Even if this condition has no cure at present, there are available treatments which help control the severity of the symptoms and prevent further complications. Surgical procedures may be desired to correct some correctible physical deformities related to Stickler syndrome. Surgery includes tracheostomy, jaw surgery, cleft palate repair, ear tubes, eye surgeries and joint replacement.
Pictures of Stickler Syndrome
Photos, Images and Pictures of Stickler Syndrome…