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

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

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

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

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

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

• Stickler Syndrome
• Genetic disorder
• COL11A1