Based on Current Evidence (2023–2024 Guidelines, ICSD-3, and Key Peer-Reviewed Literature) 1. Definition & Epidemiology Delayed Sleep/Wake Phase Disorder (DSPWD)—renamed in the International Classification of Sleep Disorders, 3rd Edition (ICSD-3)…
Definition & PathophysiologyMucus fishing syndrome (MFS) is a behavioral-ocular disorder characterized by repetitive, voluntary removal of filamentous mucus strands from the ocular surface—typically using fingers, cotton swabs, or other tools—despite…
Tricuspid atresia (TA) is a cyanotic congenital heart defect characterized by the absence or complete occlusion of the tricuspid valve, preventing normal blood flow from the right atrium to the…
Updated with Current Genetic Insights and Management Recommendations (2024) Epidemiology and Clinical Definition Russell–Silver syndrome (RSS; OMIM #180860, #601803) is a rare, clinically and genetically heterogeneous congenital growth disorder characterized…
1. Definition and Origin of the Term “Disease X” “Disease X” is a conceptual placeholder introduced by the World Health Organization (WHO) in February 2018 as part of its R&D…
Overview & Definition Eosinophilic granulomatosis with polyangiitis (EGPA), formerly known as Churg–Strauss syndrome (CSS), is a rare, systemic, necrotizing vasculitis affecting small-to-medium-sized blood vessels, characterized by: Asthma (present in >95%…
Genetic Basis & Molecular Pathophysiology PURA syndrome (OMIM #616513) is a rare, autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the PURA gene (Pur-alpha homolog, Drosophila; OMIM: 602479), located…
1. Nomenclature & Classification Grayson–Wilbrandt Corneal Dystrophy (GWCD; OMIM #618546), often informally referred to as “Grayson’s Syndrome,” is a very rare, autosomal recessive corneal dystrophy classified under the mitochondrial subtype…
Definition and Pathophysiology Median Arcuate Ligament Syndrome (MALS), also known as celiac artery compression syndrome or superior mesenteric artery (SMA)–aorta compression variant, is a rare, mechanically mediated vascular disorder characterized…
Definition and EpidemiologyKlippel–Trenaunay syndrome (KTS; OMIM #150800) is a rare, non-hereditary congenital disorder characterized by a triad of features: Capillary malformation (port-wine stain) Venous malformations and/or venous anomalies Soft tissue…
Definition & EpidemiologyOlmsted syndrome (OS; OMIM #164900) is an extremely rare, non-neoplastic congenital disorder characterized by progressive, symmetrical, mutilating palmoplantar keratoderma (PPK) with periorificial hyperkeratotic lesions. First described in 1928…
1. Definition and Pathophysiology Purple Urine Bag Syndrome (PUBS) is a rare, clinically benign but visually striking complication of long-term indwelling urinary catheterization, characterized by the appearance of purple- to…
Overview of Eczema ‘Eczema’ is a very commonly known skin condition. It is a Greek word. The meaning of eczema is ‘to boil’. Many people use the word eczema to…
1. Genetic Basis and Pathophysiology Menkes disease (MD; OMIM #309400) is an X-linked recessive disorder caused by pathogenic variants in the ATP7A gene (chromosome Xq21.1), which encodes a P-type ATPase…
Epidemiology and Classification 48,XXYY syndrome is a rare sex chromosome aneuploidy affecting approximately 1 in 18,000–50,000 male births. It falls under the broader spectrum of Klinefelter variant syndromes, which includes…
