Rare Disease Show - Episode 26: Understanding Pfeiffer Syndrome ft Dr. Roshan Daniel - Video

Medical Dialogues presents a rare disease series, delving into the realm of uncommon medical conditions. Rare diseases are medical conditions that affect only a small percentage of the population. Throughout this series, we'll discuss these rare diseases in various episodes, with medical experts providing clear explanations and insights.

Rare Disease Show Episode 26 - In today's show we will explore Pfeiffer Syndrome. Pfeiffer Syndrome is a rare genetic disorder characterized by the premature fusion of certain skull bones, resulting in an abnormal head shape and facial features. This condition results from mutations affecting bone development and can also cause issues with the hands and feet, such as broad and fused fingers or toes. Early diagnosis and multidisciplinary care involving surgery, genetics, and pediatric specialists are essential to manage symptoms and improve quality of life. Advances in research continue to enhance understanding and treatment options for this complex syndrome.

In this episode, Dr. Roshan Daniel, a Medical Genetics Consultant, shares his insights by addressing questions asked by the Medical Dialogues team.

1. What is Pfeiffer syndrome and what are the key clinical features that should raise suspicion for Pfeiffer syndrome in a newborn or infant?

2. At what ages do the most critical complications typically present and require intervention?

3. Which genes and types of variants are most commonly implicated in Pfeiffer syndrome?

4. What is your preferred genetic testing strategy for a suspected case (single-gene testing, panel, exome, trio testing)?

5. How do you approach variants of uncertain significance in FGFR genes for clinical decision-making?

6. What specialists should be part of the core multidisciplinary team managing Pfeiffer syndrome?

7. What are the current best practices for airway management in infants with midface hypoplasia and craniosynostosis?

8. What role do non-surgical therapies (orthodontics, speech, hearing support, physical therapy) play longitudinally?

9. How do you explain inheritance patterns and recurrence risk to affected families?

10. What are the long-term neurodevelopmental and functional outcomes you typically observe?

11. Are there any targeted or experimental therapies under investigation for FGFR-related craniosynostosis syndromes?

12. Can you describe a challenging case you managed and the lessons learned from multidisciplinary decision-making?