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Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this remains controversial. Marshall syndrome is caused by mutations in the COL11A1 gene and is inherited in an autosomal dominant fashion.
Source: GARD Last updated on 05-01-20
There is limited information on the average lifespan for an individual with Marshall syndrome. One article describes a family with many affected relatives in several generations and refers to individuals who have Marshall syndrome and are in their 30s and 40s. There are also specific reports of individuals who are suspected to have Marshall syndrome and are doing well at ages 29 and 35.
It appears from the medical literature that individuals with Marshall syndrome may have relatively normal life expectancy. The main features of Marshall syndrome are not expected to be life-threatening, though the severity of symptoms may vary among affected individuals. Only one article in the medical literature stated that lifespan may be shortened because of this condition; the authors suggested that respiratory problems related to Marshall syndrome may lead to a reduced lifespan. However, respiratory problems are currently not considered a feature of this disease and no other article mentions this concern.
Last updated on 05-01-20
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