Q&A

How many people have Marshall-Smith Syndrome?

Marshall-Smith Syndrome is a rare disorder that has only been documented in about 50 individuals worldwide. It appears to affect males and females equally. Symptoms are typically present at birth, such as the previously escribed characteristic facial features.

Is Marshall syndrome hereditary?

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.

What is the incidence of a rare disease?

The total number of Americans living with a rare disease is estimated at between 25-30 million. This estimate has been used by the rare disease community for several decades to highlight that while individual diseases may be rare, the total number of people with a rare disease is large.

Is Marshall syndrome fatal?

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.

What is Marshall syndrome?

Marshall syndrome is a rare autosomal dominant genetic disorder caused by mutations in the COL11A1 gene. Major symptoms may include a distinctive face with a flattened nasal bridge and nostrils that are tilted upward, widely spaced eyes, nearsightedness, cataracts and hearing loss.

Is there a cure for Marshall syndrome?

There is no medical treatment for either syndrome but there are some recommendations that can help with prevention or early identification of some of the problems. Children with either syndrome should have their hearing tested, and adults should be aware that the hearing loss may not develop until the adult years.