Marshall–Smith syndrome

Marshall–Smith syndrome (MSS) is a rare genetic disorder characterized by accelerated skeletal maturation, distinctive facial features, and developmental delays. The syndrome was first described by Marshall and Smith in 1971.

Signs and Symptoms

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

• Accelerated skeletal maturation
• Distinctive facial features such as a prominent forehead, large eyes, and a small nose
• Respiratory difficulties
• Developmental delays and intellectual disability
• Hypertrichosis (excessive hair growth)
• Failure to thrive

Genetics

Marshall–Smith syndrome is caused by mutations in the NFIX gene, which plays a crucial role in the development of the brain and bones. The condition is inherited in an autosomal dominant manner, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder.

Diagnosis

Diagnosis of Marshall–Smith syndrome is based on clinical evaluation, identification of characteristic physical features, and genetic testing to confirm mutations in the NFIX gene. Radiographic imaging may also be used to assess skeletal abnormalities.

Management

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

• Respiratory support for breathing difficulties
• Nutritional support to address failure to thrive
• Physical therapy and occupational therapy to aid in developmental progress
• Regular monitoring and management of associated health issues

Prognosis

The prognosis for individuals with Marshall–Smith syndrome varies depending on the severity of symptoms and associated complications. Early intervention and supportive care can improve the quality of life for affected individuals.

Related Pages

• Genetic disorder
• Developmental delay
• Intellectual disability
• Hypertrichosis
• Autosomal dominant inheritance

External Links

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