Van Maldergem–Wetzburger–Verloes syndrome

Van Maldergem–Wetzburger–Verloes syndrome (also known as VMWV syndrome) is a rare genetic disorder characterized by a variety of physical and developmental abnormalities. The syndrome was first described by the Belgian geneticists L. Van Maldergem, M. Wetzburger, and A. Verloes in 1992.

Symptoms and Signs

The symptoms of Van Maldergem–Wetzburger–Verloes syndrome can vary greatly among affected individuals. Common features of the syndrome 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 prominent nose. Other features may include hearing loss, vision impairment, and abnormalities of the hands and feet.

Causes

Van Maldergem–Wetzburger–Verloes syndrome is caused by mutations in a specific gene. The exact gene responsible for the syndrome has not yet been identified. The syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell must have mutations for an individual to be affected.

Diagnosis

The diagnosis of Van Maldergem–Wetzburger–Verloes 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 Van Maldergem–Wetzburger–Verloes syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and management of specific symptoms such as hearing loss and vision impairment.

See also

• Genetic disorder
• Autosomal recessive inheritance
• Intellectual disability
• Microcephaly
• Hypotonia

NIH genetic and rare disease info

• NIH info on Van Maldergem–Wetzburger–Verloes syndrome

Van Maldergem–Wetzburger–Verloes syndrome is a rare disease.

Van Maldergem–Wetzburger–Verloes syndrome Resources
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