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.