Norman–Roberts lissencephaly syndrome

Norman–Roberts lissencephaly syndrome is a rare genetic disorder characterized by the absence of normal folds (gyri) and grooves (sulci) in the cerebral cortex of the brain, a condition known as lissencephaly. This syndrome is also associated with other abnormalities such as microcephaly (small head size), intellectual disability, and seizures. The syndrome is named after the scientists John Norman and Robert Roberts, who first described the condition.

Etiology

Norman–Roberts lissencephaly syndrome is caused by mutations in the PAFAH1B1 gene, also known as the LIS1 gene. This gene provides instructions for making a protein that is involved in the movement of cells and structures within cells. Mutations in the PAFAH1B1 gene disrupt the normal development of the brain, leading to the characteristic features of Norman–Roberts lissencephaly syndrome.

Clinical Features

The most prominent feature of Norman–Roberts lissencephaly syndrome is lissencephaly, which results in a smooth brain surface due to the lack of normal gyri and sulci. This abnormal brain development leads to severe intellectual disability and developmental delay. Other features of the syndrome can include microcephaly, seizures, abnormal facial features, and problems with muscle tone.

Diagnosis

Diagnosis of Norman–Roberts lissencephaly syndrome is based on the clinical features, particularly the presence of lissencephaly. Genetic testing can confirm the diagnosis by identifying a mutation in the PAFAH1B1 gene.

Treatment

There is currently no cure for Norman–Roberts lissencephaly syndrome. Treatment is supportive and aims to manage the symptoms. This can include medications to control seizures, physical therapy to improve muscle tone, and special education services to support intellectual development.

Prognosis

The prognosis for individuals with Norman–Roberts lissencephaly syndrome is generally poor, due to the severe brain abnormalities and associated health problems. However, the severity of the condition can vary, and some individuals may live into adulthood with appropriate supportive care.

See Also

• Lissencephaly
• Genetic disorder
• PAFAH1B1

NIH genetic and rare disease info

• NIH info on Norman–Roberts lissencephaly syndrome

Norman–Roberts lissencephaly syndrome is a rare disease.

Norman–Roberts lissencephaly syndrome Resources
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