Paula and Bobby
Parents of Lillie
Marshall syndrome (MRSHS)
What is Marshall syndrome (MRSHS)?
Marshall syndrome is a rare genetic syndrome that presents with unique facial features, eye anomalies, cataracts and hearing loss.
Males and females are affected by the syndrome in equal numbers.
What gene changes cause Marshall syndrome (MRSHS)?
Mutations in the COL11A1 gene are responsible for the syndrome. It is inherited in an autosomal dominant pattern.
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
What are the main symptoms of Marshall syndrome (MRSHS)?
Unique facial features associated with the syndrome include a sunken midface, a flattened nasal bridge, nostrils that turn upward and widely spaced eyes.
Another symptom involves the presence of calcium deposits in the skull, as well as a thicker upper portion of the skull.
Common symptoms affecting the eyes include nearsightedness, cataracts (clouding of the eyes) and widely spaced eyes. Hearing loss is also common and may vary in its severity from person to person.
How does someone get tested for Marshall syndrome (MRSHS)?
The initial testing for Marshall syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.
With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.
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Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
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Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
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