McGillivray syndrome

Autosomal dominant - en

McGillivray syndrome is a rare genetic disorder characterized by a combination of distinctive facial features, developmental delays, and various congenital anomalies. The syndrome is named after the physician who first described it.

Presentation

Individuals with McGillivray syndrome often present with a range of symptoms that can vary in severity. Common features include:

• Developmental delay: Affected individuals may experience delays in reaching developmental milestones such as sitting, walking, and talking.
• Facial dysmorphism: Distinctive facial features may include a broad forehead, widely spaced eyes (hypertelorism), a flat nasal bridge, and a small chin (micrognathia).
• Congenital heart defects: Some individuals may have structural abnormalities of the heart present from birth.
• Growth retardation: Affected individuals may have below-average growth and stature.
• Intellectual disability: Varying degrees of intellectual disability may be present.

Genetics

McGillivray syndrome is believed to be caused by mutations in a specific gene, although the exact genetic basis is not yet fully understood. The syndrome is typically 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 McGillivray syndrome is based on clinical evaluation, identification of characteristic features, and genetic testing to confirm the presence of mutations associated with the syndrome. Prenatal diagnosis may be possible if there is a known family history of the disorder.

Management

There is no cure for McGillivray syndrome, and treatment is primarily supportive and symptomatic. Management may involve a multidisciplinary approach, including:

• Physical therapy: To help improve motor skills and muscle strength.
• Speech therapy: To address speech and language delays.
• Special education: Tailored educational programs to support learning and development.
• Cardiology: Monitoring and treatment of congenital heart defects.

Prognosis

The prognosis for individuals with McGillivray syndrome varies depending on the severity of symptoms and the presence of associated health issues. Early intervention and supportive care can improve the quality of life for affected individuals.

Related Pages

• Genetic disorder
• Developmental delay
• Congenital heart defect
• Intellectual disability
• Physical therapy
• Speech therapy