Discover the key features of Reye’s Syndrome, a rare but life-threatening condition linked to aspirin use in children. This concise video covers its pathophysiology, clinical presentation, and emergency management—perfect for quick revision and exam prep.

Fragile X syndrome explained: causes, signs, diagnosis, and practical management for families and clinicians. Fragile X syndrome, the most common inherited cause of intellectual disability, is due to an expanded CGG repeat in the FMR1 gene on the X chromosome and affects both males and females. This video breaks down the genetics—normal CGG repeats (5–40), […]

Explore Phenylketonuria (PKU), a genetic metabolic disorder that affects the body’s ability to break down phenylalanine, in this easy-to-understand medical video. Learn about its causes, symptoms, diagnosis, and the importance of early dietary management to prevent complications. This video is ideal for students, parents, and healthcare professionals seeking clear information about PKU.

Learn about Edward syndrome (Trisomy 18), including its genetic basis, key clinical features, and associated complications. This video provides a clear overview of the condition’s causes, diagnosis, and prognosis to support understanding of this chromosomal disorder.

Angelman syndrome is a rare genetic condition caused by deficient gene expression of E3 ubiquitin protein ligase (also known as UBE3A) and was first described in 1965 by Dr Harry Angelman. Characteristic findings of Angelman syndrome include severe developmental delay and movement or balance disorder, usually in the form of gait ataxia and/or tremulous movement […]

Hemophagocytic lymphohistiocytosis (HLH) explained: learn causes, signs, tests, and life-saving treatments. This video breaks down HLH, a hyperinflammatory syndrome where overactive macrophages and cytotoxic T/NK cells trigger a cytokine storm that can destroy tissues and cause multi-organ failure. You’ll learn the difference between primary (hereditary perforin/granzyme defects) and secondary HLH (triggered by infections like EBV, […]

Explore Chediak-Higashi Syndrome, a rare autosomal recessive disorder affecting lysosomal trafficking and immune cell function. This video explains its genetic basis, characteristic features like recurrent infections and albinism, and the underlying pathophysiology driving its clinical presentation.