Viljoen-Kallis-Voges syndrome

Viljoen-Kallis-Voges Syndrome is a rare genetic disorder characterized by a combination of physical and developmental abnormalities. The syndrome was first described by Dr. Viljoen, Dr. Kallis, and Dr. Voges, after whom it is named.

Symptoms and Signs

The symptoms of Viljoen-Kallis-Voges Syndrome vary widely among affected individuals. Common symptoms include intellectual disability, microcephaly (small head size), hypotonia (low muscle tone), and distinctive facial features such as a broad forehead, deep-set eyes, and a small jaw. Some individuals may also have congenital heart defects, seizures, and abnormalities of the hands and feet.

Causes

Viljoen-Kallis-Voges Syndrome is caused by mutations in a specific gene that is yet to be identified. It is believed to be 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 Viljoen-Kallis-Voges Syndrome is based on clinical examination and the presence of characteristic symptoms. Genetic testing may be used to confirm the diagnosis and identify the specific gene mutation.

Treatment

There is currently no cure for Viljoen-Kallis-Voges Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage seizures and other symptoms.

Prognosis

The prognosis for individuals with Viljoen-Kallis-Voges Syndrome varies depending on the severity of symptoms. With appropriate support and treatment, many individuals with the syndrome can lead fulfilling lives.

See Also

• Genetic Disorders
• Autosomal Recessive
• Microcephaly
• Hypotonia

NIH genetic and rare disease info

• NIH info on Viljoen-Kallis-Voges syndrome

Viljoen-Kallis-Voges syndrome is a rare disease.

Viljoen-Kallis-Voges syndrome Resources
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