What is the prevalence of Miller-Dieker syndrome?
How many people does Miller-Dieker syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Miller-Dieker syndrome is a rare genetic disorder characterized by a smooth brain surface (lissencephaly) and distinctive facial features. It is caused by a deletion of genetic material on chromosome 17. The prevalence of Miller-Dieker syndrome is estimated to be approximately 1 in 100,000 live births. The condition is more commonly observed in individuals of European descent. Miller-Dieker syndrome is associated with severe developmental delays, intellectual disabilities, and seizures. Early diagnosis and intervention are crucial for managing the symptoms and providing appropriate support to affected individuals and their families.
Miller-Dieker syndrome is a rare genetic disorder characterized by a range of physical and developmental abnormalities. It is caused by a deletion of genetic material on chromosome 17, specifically the region known as 17p13.3. This condition affects the brain's development, resulting in a smooth brain surface (lissencephaly) instead of the normal convoluted appearance.
The prevalence of Miller-Dieker syndrome is estimated to be approximately 1 in 100,000 live births. It is considered a rare disorder, affecting both males and females equally. The condition is often diagnosed in infancy or early childhood due to the presence of distinct physical features and developmental delays. These features may include a small head size (microcephaly), facial abnormalities, seizures, muscle weakness, and intellectual disabilities.
While Miller-Dieker syndrome is rare, it is important for healthcare professionals and families to be aware of its signs and symptoms. Early intervention and supportive care can help manage the associated challenges and improve the quality of life for individuals with this condition.
