Marshall syndrome is a genetic disorder that affects connective tissue and can cause hearing loss, eye problems, joint hyperextensibility, and facial abnormalities. It is similar to Stickler syndrome and has no cure, but treatment and therapy can help manage symptoms. It is inherited on a non-sex chromosome and can vary in expression within families. Symptoms include hearing loss, nearsightedness, cataracts, joint pain, and facial abnormalities.
Marshall syndrome is a genetic disorder that can cause hearing loss and disorders of the eyes, joints and facial structures. It is remarkably similar to Stickler syndrome, another genetic disorder that causes hearing loss as well as problems with the eyes, joints and facial structures. Some believe that the two disorders may, in fact, be the same disorder. Both disorders affect connective tissue, a type of fibrous tissue that provides support and structure to 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 living together easier, particularly if it is identified early enough.
Genetically, Marshall syndrome is an autosomal dominant disorder, meaning it is inherited on a non-sex chromosome and only one allele coding for the disease is required for expression. The level at which Marshall syndrome is expressed, however, varies significantly, and not everyone with the gene for the disorder experiences the same conditions and symptoms. This variation can also occur within families; a father with very mild symptoms may have a child with very severe symptoms. Families who are aware of genetic predisposition to the disease can have their children tested at a young age so that, if they have the disorder, they can receive appropriate treatment and therapy early in life.
One of the symptoms of Marshall syndrome is hearing loss. This hearing loss tends to occur mostly in the higher frequencies. In some cases, hearing loss from the disorder can get worse over time.
Although Marshall syndrome can cause a variety of different eye problems, nearsightedness is by far the most common. Nearsightedness, also known as nearsightedness, is a refractive error of the eye in which light enters the eye incorrectly and makes distant objects appear blurry. Cataracts are also relatively common in Marshall syndrome. A detached retina is another possible eye problem associated with the disorder, but it is more common in people with Stickler syndrome.
Marshall syndrome also affects the joints and causes hyperextensibility or double joint. 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 central face, prominent front teeth, or any of a variety of other facial abnormalities. Individuals may also be short in stature as a result of the disorder.
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