Juliana was relieved to finally get a name for her baby’s odd appearance. Although she now knew that Amber suffered from Marshall syndrome, she quickly became apprehensive about the number of specialists the pediatrician said would be needed to care for the child.
What is Marshall syndrome?
It’s a very rare genetic disorder, according to the National Organization for Rare Disorders (RARE). Marshall syndrome has been classified as an autosomal dominant condition. This means that it affects males and females equally.
Healthline indicates that Dr. D. Marshall initially described this syndrome in 1958. Researchers have studied it periodically every since then. The disorder is challenging because it affects multiple systems of the body, among them eyes, ears and musculoskeletal structures.
What causes this disorder?
Mutations in the COL11A1 gene are responsible for Marshall syndrome. These changes result in an abnormality in the body’s collagen, a crucial component of connective tissue.
Experts initially considered this condition a subset of Stickler syndrome, which occurs more commonly. While research in 1998 and 1999 revealed that Marshall syndrome is a distinct disorder, some patients appear to have overlaps of both conditions.
The risk of a child developing the disorder when one parent is affected with it is 50 percent. In all dominant disorders, just one copy of an abnormal gene from either parent causes the appearance of the disease in question.
Since Marshall syndrome is so rare, researchers have uncovered little demographic data regarding it. Fewer than 100 cases across the globe have been reported in medical literature.
What are the signs and symptoms of Marshall syndrome?
The hallmark signs appear in patients’ facial features. They typically include an upturned nose, eyes that look very large due to extra space between them and a flat bridge of the nose. In most affected individuals, the upper part of the skill is uncommonly thick. The cranium might contain deposits of calcium.
Palate abnormalities and osteoarthritis, especially in the knees, are common. Typical visual problems include glaucoma, detached retinas and crossed eyes. Many individuals experience protruding upper teeth. Patients are frequently short when compared to other family members.
How do doctors diagnose and treat this disorder?
Doctors note the prominent features of a child and any very early signs of eye and ear problems. Since the condition is hereditary, they can usually spot telltale signs in the affected parent. Because genetic testing is so expensive, it isn’t routinely used. Instead, patients are diagnosed as potentially suffering from Marshall syndrome or Stickler syndrome due to their appearance and symptoms.
There is no cure for Marshall syndrome. Health care providers treat the patient’s symptoms. Affected children should have eye and ear exams every year due to the risk of early cataracts and hearing loss.
Surgery removes any cataracts that do develop. The only treatment for progressive hearing loss associated with this disorder is use of a hearing aid.
The flat saddle nose associated with the syndrome can be changed via cosmetic surgery. When doctors note osteoarthritis, they typically advise against participating in contact sports.
Researchers don’t have enough data to predict the life expectancy of patients with Marshall syndrome. Doctors do know that as they age, patients overall experience worsening vision and hearing problems. Many affected individuals develop osteoarthritis much earlier than normal, often in their teens or twenties.
Sources:
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Marshall+Syndrome
http://www.healthline.com/galecontent/marshall-syndrome
