Overview

Rare diseases are often missed-not because they are invisible, but because they do not follow textbook patterns. This book is a practical, clinician-focused guide to rare non-syndromic diseases, designed to sharpen diagnostic reasoning when common explanations fail. Instead of relying on classic syndromic constellations, it explores isolated organ diseases, atypical presentations, forme fruste genetic conditions, and rare disorders that masquerade as common illnesses. Written for doctors, residents, fellows, and advanced practitioners, this book takes a case-based, system-by-system approach across neurology, rheumatology, hematology, gastroenterology, hepatology, pulmonology, cardiology, and immunology. Each chapter focuses on high-yield diagnostic clues, red flags of rarity, pathognomonic imaging and laboratory findings, and common pitfalls that delay diagnosis. You will learn how to: Recognise rare diseases without classic syndromic features Approach isolated organ failure with a structured differential Identify disproportionate biomarkers and imaging signs Distinguish rare diseases from functional, psychiatric, or idiopathic labels Apply mechanistic clinical reasoning rather than pattern memorisation This book is ideal for clinicians facing diagnostic uncertainty, unexplained symptoms, refractory disease, or patients labelled as ""idiopathic."" It serves as both a diagnostic reference and a thinking framework for modern medicine-where rare diseases are increasingly recognised, but still frequently overlooked. Whether you are preparing for specialty training, expanding your differential diagnoses, or managing complex patients in real-world practice, this guide will help you hear the hoofbeats-and recognise the zebra, even when it has no stripes.

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