Definition:
Marshall syndrome is a rare genetic disorder that is usually inherited in an autosomal dominant pattern. The condition can occur in both male and female.
Diagnosis:
Marshall syndrome can be diagnosed based on the appearance and symptoms present. Genetic testing can aid diagnosis of the syndrome but it is not recommended most of the time because it is expensive.
Treatment:
There is no cure for Marshall syndrome as a whole but the symptoms produced by the syndrome must be treated.
Symptoms and Signs:
Persons inflicted with Marshall syndrome presents distinctive facial features including:
* Upturned nose
* Widely spaced eyes that makes them appear larger than normal size
* Depressed nose (flat nasal bridge)
* Flat or retracted midface
* Prominent or protruding upper front teeth
* Thick lips
* Short nose
Other associated symptoms may be present like:
* Short stature
* Nearsightedness or myopia
* Opacities occurring in the lens of the eyes or cataracts
* An eyes disorder called Esotropia wherein one or both eyes are turned inwards
* Hearing loss or impairment caused by cochlear or acoustic nerve problems (Sensorineural deafness)
* Absence of frontal sinuses
* Forearm bones are bowed outward
* Abnormalities in the palate
* Early osteoarthritis particularly in the knees
* Glaucoma
Causes:
Marshall syndrome is caused by an abnormality in the collage, a fundamental part of the connective tissue.
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