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…
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 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…
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…
What is McCune Albright Syndrome? McCune Albright syndrome is a genetic disorder characterized by abnormal deposits of scar-like or fibrous tissue in bones and skin along with defects in endocrine…
