Marshall
Marshall Syndrome is a rare genetic disorder characterized by a variety of physical abnormalities. It was first described by Richard E. Marshall and colleagues in 1971. The syndrome is considered a variant of Stickler Syndrome, a group of genetic disorders affecting connective tissue, particularly collagen.
Symptoms and Signs[edit | edit source]
Marshall Syndrome is characterized by a number of distinctive physical features. These include:
- Short stature
- Hearing loss
- Cataracts
- Flat feet
- Joint hypermobility
- Facial dysmorphism such as a flat nasal bridge and prominent eyes
Genetics[edit | edit source]
Marshall Syndrome is caused by mutations in the COL11A1 gene. This gene provides instructions for making a protein that is used to form type XI collagen, a key component of the body's connective tissues. Mutations in the COL11A1 gene disrupt the production or assembly of this collagen, leading to the symptoms of Marshall Syndrome.
Diagnosis[edit | edit source]
Diagnosis of Marshall Syndrome is based on the presence of characteristic physical features. Genetic testing can confirm a diagnosis by identifying a mutation in the COL11A1 gene.
Treatment[edit | edit source]
There is currently no cure for Marshall Syndrome. Treatment is symptomatic and supportive, and may include:
- Physical therapy for joint hypermobility
- Hearing aids for hearing loss
- Surgery for cataracts
Prognosis[edit | edit source]
The prognosis for individuals with Marshall Syndrome varies. Some individuals may have mild symptoms and a normal lifespan, while others may experience significant health problems and a shortened lifespan.
See Also[edit | edit source]
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Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD