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OrphaChat — a Rare Disease Podcast
Robin Hendel, MD
192 episodes
6 hours ago
Rare disease topics discussed by two virtual hosts. This is not medical advice and may contain mistakes, hallucinations and funny pronunciation. Content is provided as is. This is a personal project and does not represent professional or institutional opinions.
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Medicine
Health & Fitness
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All content for OrphaChat — a Rare Disease Podcast is the property of Robin Hendel, MD and is served directly from their servers with no modification, redirects, or rehosting. The podcast is not affiliated with or endorsed by Podjoint in any way.
Rare disease topics discussed by two virtual hosts. This is not medical advice and may contain mistakes, hallucinations and funny pronunciation. Content is provided as is. This is a personal project and does not represent professional or institutional opinions.
Show more...
Medicine
Health & Fitness
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VATER/VACTERL Association
OrphaChat — a Rare Disease Podcast
18 minutes 57 seconds
1 day ago
VATER/VACTERL Association

The provided sources examine the VATER/VACTERL association, a complex cluster of congenital anomalies including vertebral, anal, cardiac, tracheoesophageal, renal, and limb defects. Diagnosis typically requires the presence of at least three of these features while excluding overlapping conditions like CHARGE syndrome or Fanconi anaemia. Researchers explore a multifactorial etiology, highlighting genetic mutations in genes such as HSPA6 and TRAP1, as well as environmental triggers like maternal diabetes or pollutant exposure. Surgical intervention is vital for managing life-threatening malformations, with modern techniques like thoracoscopy offering improved outcomes for infants. Long-term studies indicate that while many survivors achieve independence, they face ongoing risks of cancer, incontinence, and respiratory complications into adulthood. Comprehensive care involves a multidisciplinary medical home model to support developmental screening and the transition to adult healthcare.

OrphaChat — a Rare Disease Podcast
Rare disease topics discussed by two virtual hosts. This is not medical advice and may contain mistakes, hallucinations and funny pronunciation. Content is provided as is. This is a personal project and does not represent professional or institutional opinions.