Marshall syndrome
Marshall syndrome
Marshall syndrome (pronounced: /ˈmɑːrʃəl/ MAR-shəl) is a rare genetic disorder characterized by a range of distinctive facial features, ocular abnormalities, hearing loss, and early onset arthritis. The syndrome was first described by Richard E. Marshall and colleagues in 1958.
Etymology
The term "Marshall syndrome" is derived from the name of the physician who first described the condition, Dr. Richard E. Marshall.
Symptoms
Marshall syndrome is characterized by a range of symptoms, including:
- Facial dysmorphism: Distinctive facial features such as a flat nasal bridge, wide-set eyes, and a small lower jaw.
- Ocular abnormalities: Including severe myopia, cataract, and possible retinal detachment.
- Hearing loss: Often sensorineural in nature.
- Arthritis: Early onset, often affecting the hands and feet.
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 complex molecule that provides structure and strength to the body's tissues.
Diagnosis
Diagnosis of Marshall syndrome is based on clinical examination and genetic testing. The presence of the distinctive facial features, ocular abnormalities, hearing loss, and early onset arthritis are indicative of the condition. Genetic testing can confirm the diagnosis by identifying a mutation in the COL11A1 gene.
Treatment
Treatment for Marshall syndrome is symptomatic and supportive. This may include corrective lenses or surgery for ocular abnormalities, hearing aids for hearing loss, and physical therapy or surgery for arthritis.
See also
External links
- Medical encyclopedia article on Marshall syndrome
- Wikipedia's article - Marshall syndrome
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