Marshall syndrome

Autosomal dominant - en

Marshall syndrome is a rare genetic disorder characterized by distinctive facial features, hearing loss, and eye abnormalities. It is named after Dr. D. Marshall, who first described the condition. The syndrome is inherited in an autosomal dominant manner, meaning that only one copy of the altered gene is sufficient to cause the disorder.

Clinical Features

Individuals with Marshall syndrome typically present with a range of clinical features, including:

• **Facial Features**: Affected individuals often have a flat midface, a short nose with a flat nasal bridge, and a long philtrum. The eyes may appear widely spaced (hypertelorism).
• **Hearing Loss**: Conductive or sensorineural hearing loss is common in individuals with Marshall syndrome.
• **Eye Abnormalities**: These may include myopia, cataracts, and other ocular issues.
• **Skeletal Abnormalities**: Some individuals may have joint hypermobility and other skeletal anomalies.

Genetics

Marshall syndrome is caused by mutations in the COL11A1 gene, which encodes one of the chains of type XI collagen. This type of collagen is essential for the normal development of various tissues, including cartilage, the inner ear, and the eye.

Diagnosis

The diagnosis of Marshall syndrome is based on clinical evaluation, family history, and genetic testing. Molecular genetic testing can confirm the presence of mutations in the COL11A1 gene.

Management

There is no cure for Marshall syndrome, and treatment is symptomatic and supportive. Management may include:

• **Hearing Aids**: To address hearing loss.
• **Ophthalmologic Care**: Regular eye examinations and treatment for eye abnormalities.
• **Orthopedic Interventions**: For skeletal issues and joint problems.

Related Conditions

Marshall syndrome shares some features with other connective tissue disorders, such as Stickler syndrome, which also involves mutations in collagen genes.

See Also

• Stickler syndrome
• Collagen
• Genetic disorder
• Hearing loss
• Ocular abnormalities

External Links

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