Helsmoortel-Van der Aa syndrome

Helsmoortel-Van der Aa syndrome is a rare genetic disorder characterized by intellectual disability, autism spectrum disorder, and distinctive physical features. The syndrome is caused by mutations in the ADNP gene.

Symptoms

The most common symptoms of Helsmoortel-Van der Aa syndrome include intellectual disability, autism spectrum disorder, and distinctive physical features such as long eyelashes, thick or bushy eyebrows, a small mouth, and a high arched palate. Other symptoms may include hypotonia (low muscle tone), behavioral problems, and seizures.

Causes

Helsmoortel-Van der Aa syndrome is caused by mutations in the ADNP gene. This gene provides instructions for making a protein that is involved in the formation and function of neurons. Mutations in the ADNP gene disrupt the normal development and function of neurons, leading to the symptoms of Helsmoortel-Van der Aa syndrome.

Diagnosis

Diagnosis of Helsmoortel-Van der Aa syndrome is based on the presence of characteristic symptoms and confirmed by genetic testing showing a mutation in the ADNP gene.

Treatment

There is currently no cure for Helsmoortel-Van der Aa syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and speech therapy. Medications may be used to manage seizures and behavioral problems.

See also

• ADNP
• Intellectual disability
• Autism spectrum disorder
• Genetic disorder

Helsmoortel-Van der Aa syndrome Resources
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