What is Miller-Dieker syndrome

Miller-Dieker syndrome is a rare genetic disorder characterized by a range of physical and neurological abnormalities. It is caused by a deletion of genetic material on chromosome 17, specifically in the region known as 17p13.3. This deletion affects the development of the brain, leading to a smooth brain surface (lissencephaly) instead of the normal wrinkled appearance.

Individuals with Miller-Dieker syndrome typically experience severe intellectual disability, delayed development, and poor muscle tone (hypotonia). They may also exhibit distinctive facial features such as a high forehead, wide-set eyes, a small nose, and a thin upper lip. Additionally, individuals with this syndrome may have seizures, feeding difficulties, and respiratory problems.

Due to the complexity of the condition, management of Miller-Dieker syndrome involves a multidisciplinary approach. Treatment focuses on addressing the specific symptoms and may include physical therapy, occupational therapy, speech therapy, and medications to control seizures. Early intervention and supportive care are crucial to optimize the quality of life for individuals with Miller-Dieker syndrome and their families.