HEC Syndrome: A Comprehensive Medical Review Introduction HEC syndrome, standing for Hydrocephalus, Endocardial fibroelastosis, and Cataracts, is an extremely rare genetic disorder first described by Devi and colleagues in 1995. According to trusted medical organizations including Orphanet, the National Organization for Rare Disorders (NORD), and the National Institutes of Health (NIH), this syndrome is characterized …
HDR Syndrome: A Comprehensive Medical Review Introduction HDR syndrome, also known as Barakat syndrome or hypoparathyroidism-sensorineural deafness-renal disease syndrome, is an extremely rare autosomal dominant genetic disorder first described by Ali J. Barakat and colleagues in 1977. According to trusted medical organizations including Orphanet, the National Organization for Rare Disorders (NORD), and the National Institutes …
HARD Syndrome: A Comprehensive Medical Review Introduction HARD syndrome, which stands for Hydrocephalus, Agyria, Retinal Dysplasia (with or without Encephalocele, making it HARD±E syndrome), is the original terminology for what is now more commonly known as Walker-Warburg syndrome (WWS). According to trusted medical organizations including the National Institutes of Health (NIH), Orphanet, and the National …
HANAC Syndrome: A Comprehensive Medical Review Introduction Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an extremely rare autosomal dominant multisystem disorder first comprehensively characterized by Plaisier and colleagues in 2007. According to trusted medical organizations including the National Institutes of Health (NIH), Orphanet, and the National Organization for Rare Disorders (NORD), …
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 …