Van Den Ende Brunner syndrome

=Van Den Ende Brunner Syndrome = Van Den Ende Brunner Syndrome (VDEBS) is a rare genetic disorder characterized by distinct craniofacial features, skeletal anomalies, and developmental delays. It is named after the researchers who first described the condition.

Clinical Features

Individuals with Van Den Ende Brunner Syndrome typically present with a combination of the following features:

• Craniofacial Dysmorphism: This includes a prominent forehead, hypertelorism (wide-set eyes), a broad nasal bridge, and a small chin.
• Skeletal Anomalies: Patients may exhibit brachydactyly (short fingers and toes), clinodactyly (curved fingers), and other limb abnormalities.
• Developmental Delays: Affected individuals often experience delays in reaching developmental milestones, such as walking and talking.
• Other Features: Additional symptoms may include dental anomalies, hearing loss, and vision problems.

Genetics

Van Den Ende Brunner Syndrome is caused by mutations in the SCO2 gene, which plays a role in mitochondrial function. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Diagnosis

Diagnosis of Van Den Ende Brunner Syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the SCO2 gene.

Management

There is currently no cure for Van Den Ende Brunner Syndrome. Management focuses on addressing the symptoms and may include:

• Physical Therapy: To improve motor skills and mobility.
• Speech Therapy: To assist with communication difficulties.
• Regular Monitoring: For potential complications such as hearing and vision problems.

Research and Future Directions

Research into Van Den Ende Brunner Syndrome is ongoing, with studies focusing on understanding the underlying genetic mechanisms and exploring potential therapeutic approaches.

See Also

• Rare Diseases
• Genetic Disorders
• Developmental Delays
• Van Den Ende, J., & Brunner, H. G. (Year). Title of the original paper. Journal Name, Volume(Issue), Page numbers.
• Additional references and sources.

NIH genetic and rare disease info

• NIH info on Van Den Ende Brunner syndrome

Van Den Ende Brunner syndrome is a rare disease.