Stickler Syndrome
Stickler syndrome is an inherited condition usually diagnosed in early childhood. The eyes, nose and chin are shaped differently than normal children. These features include a small nose, receding chin and prominent eye shape. Here are the facts about this childhood condition and how it affects children and adults.
Noticeable symptoms The symptoms of Stickler syndrome are sometimes easy to diagnose. The facial features are often the first signs to be noticed by physicians. Along with the distinctive eye, nose and chin differences, they are born with flat features as well.
Pierre Robin sequence A condition called Pierre Robin sequence may also be a sign of the condition. Breathing is difficult, and a cleft palate and protruding tongue are present. Hearing, eyesight and bone structure also may be affected.
Eye conditions Although prominent eyes are one of the signs of Stickler syndrome, other eye problems may occur. Children may have cataracts, glaucoma, nearsightedness and retinal detachments. Many of these conditions lead to blindness.
Enhanced bone conditions Stickler syndrome patients may exhibit joint pain, elongated fingers and the ability to be exceptionally flexible. Scoliosis, or the abnormal curving of the spine, is another bone condition caused by the syndrome. It is important for children diagnosed with Stickler syndrome to be monitored and checked for this spinal condition. It may be treated as early as possible to help prevent excessive curving of the spine.
Causes of the condition Gene mutation is the cause of this disease. Problems that occur in the body's collagen may lead to this syndrome. Collagen is needed in the formation and health of connective tissues. It provides stability and strength to the tissue found in the eyes, face and other structure of the body.
Stickler syndrome is treated with special medications, surgery and therapy to ease symptoms. A cure is not available as of yet. Physicians use eye, hearing and genetic testing to diagnose the condition. However, the facial features are usually an indication of this disorder.
