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Marshall Syndrome is a genetic disorder that can cause hearing loss and disorders of the eyes, joints and facial structures. It is notably similar to Stickler syndrome, another genetic disorder causing hearing loss in addition to problems of the eyes, joints and facial structures. Some believe the two disorders may, in fact, be the same disorder. Both disorders affect the connective tissue, a fibrous tissue type that provides support and structure for other tissues and organs within the body. There is no cure for the syndrome, but many different treatments and lifestyle changes are possible to make it easier to live with, particularly if it is identified early enough.
Genetically, Marshall Syndrome is an autosomal dominant disorder, meaning that it is inherited on a non-sex chromosome and that only one allele coding for the disorder is necessary for expression. The level to which Marshall Syndrome is expressed, however, varies significantly, and not all of those with the gene for the disorder experience the same conditions and symptoms. This variance can even occur within families; a father with very mild symptoms may have a son with very severe symptoms. Families that are aware of the genetic predisposition for the illness can get their children tested at young ages so that, if they have the disorder, they can receive appropriate treatment and therapy early on in life.
One of the symptoms of Marshall Syndrome is hearing loss. This loss of hearing tends to occur most notably in the higher frequencies. In some cases, hearing loss because of the disorder can grow worse over time.
Though Marshall Syndrome can cause a variety of different eye problems, myopia is by far the most common. Myopia, also known as nearsightedness, is a refractive eye error in which light enters the eye incorrectly and causes distant objects to appear blurred. Cataracts are also relatively common in Marshall Syndrome. Detached retina is another possible eye problem associated with the disorder, but it is more common in those with Stickler syndrome.
Marshall Syndrome also affects the joints and causes hyperextensibility, or double jointedness. Later in life, this tends to lead to pain and stiffness and, eventually, arthritis. Facial structure is also altered in those with Marshall Syndrome. Those with the disorder may have a short, upturned nose, large eyes, a flat midface, prominent front teeth, or any of a variety of other facial abnormalities. Individuals may also be short in stature because of the disorder.
What are the lifestyle changes for Marshall Syndrome?
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