Miller–Dieker syndrome

Miller–Dieker syndrome (MDS), also known as Miller–Dieker lissencephaly syndrome, is a rare genetic disorder characterized by lissencephaly (smooth brain), severe intellectual disability, and distinctive facial features. The syndrome is named after the physicians James Q. Miller and H. Dieker, who first described the condition.

Genetics

Miller–Dieker syndrome is caused by a deletion of genetic material on the short arm of chromosome 17 (17p13.3). This deletion includes the LIS1 gene, which is crucial for normal brain development. The loss of this gene disrupts neuronal migration during brain development, leading to the characteristic smooth brain appearance.

Clinical Features

Individuals with Miller–Dieker syndrome typically present with:

• Severe intellectual disability
• Developmental delay
• Seizures
• Hypotonia (reduced muscle tone)
• Distinctive facial features, including a prominent forehead, bitemporal hollowing, a small nose with upturned nares, and a thin upper lip.

Diagnosis

Diagnosis of Miller–Dieker syndrome is based on clinical features and confirmed by genetic testing, such as fluorescence in situ hybridization (FISH) or comparative genomic hybridization (CGH) to detect the deletion on chromosome 17p13.3.

Management

There is no cure for Miller–Dieker syndrome. Management focuses on supportive care and symptomatic treatment, including:

• Anticonvulsant medications for seizures
• Physical therapy to improve muscle tone and motor skills
• Special education programs to address developmental delays

Prognosis

The prognosis for individuals with Miller–Dieker syndrome is generally poor. Many affected individuals have a significantly shortened lifespan, often due to complications such as severe seizures, respiratory infections, or feeding difficulties.

Related Pages

• Lissencephaly
• Chromosome 17
• Genetic disorder
• Intellectual disability
• Seizure

External Links

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