A rare genetic disorder characterized by a distinctive face and vision and hearing impairment.
* Short stature * Short nose * Depressed nose * Flat nasal bridge * Anteverted nose
Individuals are diagnosed by their features as well as by the very early onset of serious eye and ear disease. Because Marshall syndrome is an autosomal dominant hereditary disease, physicians can also note the characteristic appearance of the biological parent of the child. Genetic testing is costly, thus, it is not ordered for most people. As a result, people may be diagnosed as possible Marshall syndrome or possible Stickler syndrome, based on their symptoms and appearance.
As they age, vision and hearing problems will generally worsen for patients with Marshall syndrome. Many will also develop osteoarthritis at an earlier age than for patients without Marshall syndrome, such as in the teens or twenties. Because there are so few identified cases, it is unknown what the life expectancy is of afflicted individuals.
Due to complicated medical treatment of symptoms (sometimes in parallel involving several Marshall syndrome cannot be cured; however, the symptoms caused by the disease should be treated. Children with Marshall syndrome should have annual eye and ear checkups because of the risk for cataracts and hearing loss. Cataract surgery will be needed if cataracts develop. At present, the only treatment for the progressive hearing loss is a hearing aid. The flat "saddle nose" can be altered with cosmetic surgery. If a child with Marshall syndrome has osteoarthritis, doctors may advise against contact sports.