Guttmacher Syndrome: A Comprehensive Medical Review Introduction Guttmacher syndrome, also known as autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias, is an extremely rare genetic disorder first described by Alan E. Guttmacher in 1993. According to trusted medical organizations including Orphanet, the National Organization for Rare Disorders (NORD), and the National Institutes of Health (NIH), …
Guibaud Vainsel syndrome Introduction Guibaud-Vainsel syndrome, also known as marble brain disease or osteopetrosis with renal tubular acidosis, is an extremely rare autosomal recessive disorder first described by Guibaud and Vainsel in 1972. According to trusted medical organizations including Orphanet, the National Organization for Rare Disorders (NORD), and the National Institutes of Health (NIH), this …
Guam Disease: A Comprehensive Medical Review Introduction Guam disease, formally known as the Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex (ALS-PDC) of Guam, represents one of the most enigmatic neurodegenerative disorders in medical history. Also referred to as Lytico-Bodig disease in the native Chamorro language, this rare neurodegenerative condition was endemic to the Chamorro people of Guam and …
Greither Disease: A Comprehensive Medical Review Introduction Greither disease, also known as transgrediens et progrediens palmoplantar keratoderma, is a rare inherited genodermatosis first described by Greither in 1952. According to trusted medical organizations including Orphanet and the National Organization for Rare Disorders (NORD), this condition is characterized by diffuse keratoderma of the palms and soles …
Griscelli Syndrome: A Comprehensive Medical Review Introduction Griscelli syndrome (GS) is a rare autosomal recessive disorder first described by Claude Griscelli and M.C. Siccardi in 1978, characterized primarily by hypopigmentation of the skin and hair, creating a distinctive silvery-gray appearance. According to the National Institutes of Health (NIH) and major pediatric organizations, this condition represents …
Autoimmune Hypophysitis: A Comprehensive Medical Review Introduction Autoimmune hypophysitis is a rare inflammatory disorder of the pituitary gland that arises from autoimmune dysfunction, leading to chronic inflammation and subsequent pituitary dysfunction. Also known as lymphocytic hypophysitis, this condition represents the most common form of primary hypophysitis, accounting for approximately 71.8% of all primary hypophysitis cases. …
Autoimmune Enteropathy Introduction Autoimmune enteropathy (AIE) is a rare, immune-mediated disorder characterized by intractable diarrhea, malabsorption, and immune-driven injury to the intestinal mucosa. First described in 1982, AIE predominantly affects infants but may present at any age. Because of its severity and resistance to dietary measures, prompt recognition and immunosuppressive therapy are essential.[1][2] Epidemiology AIE …