Zaki syndrome

Zaki Syndrome is a rare genetic disorder characterized by a range of physical and developmental abnormalities. It was first described by Dr. Maha Zaki and her team in 2012, hence the name. The syndrome is caused by mutations in the PLK4 gene, which is involved in cell division and growth.

Symptoms and Signs

The symptoms of Zaki Syndrome vary among affected individuals. However, common features include microcephaly (abnormally small head size), intellectual disability, seizures, and distinctive facial features such as a prominent forehead, wide-set eyes, and a small jaw. Some individuals may also have congenital heart defects, skeletal abnormalities, and growth retardation.

Genetics

Zaki Syndrome is caused by mutations in the PLK4 gene. This gene provides instructions for making a protein that is involved in cell division. The PLK4 protein plays a crucial role in the process of mitosis, ensuring that each new cell receives the correct number of chromosomes. Mutations in the PLK4 gene disrupt this process, leading to the various symptoms seen in Zaki Syndrome.

The syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Diagnosis

Diagnosis of Zaki Syndrome is based on clinical examination and genetic testing. The distinctive physical features and developmental delays seen in the syndrome can provide clues to the diagnosis. However, definitive diagnosis requires identification of a mutation in the PLK4 gene through genetic testing.

Treatment

There is currently no cure for Zaki Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to control seizures. Regular follow-up with a team of specialists is recommended to monitor the individual's health and manage any complications.

See Also

• Genetic Disorders
• Microcephaly
• Intellectual Disability
• Seizures
• Congenital Heart Defects
• Skeletal Abnormalities
• Growth Retardation
• Mitosis
• Autosomal Recessive
• Genetic Testing

NIH genetic and rare disease info

• NIH info on Zaki syndrome

Zaki syndrome is a rare disease.

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