Haptocorrin Deficiency: A Comprehensive Medical Review Introduction Haptocorrin deficiency (also referred to as transcobalamin I (TCI) deficiency or R-binder deficiency) is a rare, inherited disorder characterized by abnormally low levels of haptocorrin, a vitamin B₁₂ (cobalamin)–binding protein. Haptocorrin plays an important role in the transport and protection of vitamin B₁₂, especially in the upper gastrointestinal …
Hapnes Boman Skeie Syndrome: A Comprehensive Medical Review Introduction Hapnes-Boman-Skeie syndrome, also known as familial angiolipomatosis or “extensor tendons of finger anomalies,” is an extremely rare genetic disorder first described by Hapnes, Boman, and Skeie in 1980. According to Orphanet, the European reference portal for rare diseases, and the National Institutes of Health Genetic and …
Hantavirus Pulmonary Syndrome: A Comprehensive Medical Review Introduction Hantavirus pulmonary syndrome (HPS), also known as hantavirus cardiopulmonary syndrome (HCPS), is a rare but severe respiratory disease caused by New World hantaviruses that can rapidly progress to life-threatening cardiopulmonary failure. According to the Centers for Disease Control and Prevention (CDC), Mayo Clinic, and other trusted medical …
Hanot Syndrome: A Comprehensive Medical Review Introduction Hanot syndrome, also known as Hanot’s disease or hypertrophic cirrhosis with chronic jaundice (cirrhose hypertrophique avec ictère chronique), is a term historically used to describe what is now recognized as primary biliary cholangitis (PBC). Named after French physician Victor Charles Hanot (1844-1896), who first described this condition in …
Hanhart Syndrome: A Comprehensive Medical Review Introduction Hanhart syndrome is a rare congenital disorder characterized by underdevelopment of the tongue (hypoglossia), limb malformations ranging from absent or underdeveloped fingers and toes (hypodactylia) to partial absence of limbs (peromelia), and an abnormally small jaw (micrognathia). According to Orphanet, the European reference portal for rare diseases, Hanhart …
Hamman Rich Syndrome (Acute Interstitial Pneumonia): A Comprehensive Medical Review Introduction Hamman-Rich syndrome, also known as Acute Interstitial Pneumonia (AIP), is a rare and fulminant form of idiopathic interstitial lung disease first described by Louis Hamman and Arnold Rich in 1935. According to the American Thoracic Society and European Respiratory Society International Multidisciplinary Consensus Classification …
Hamel Cerebro Palato Cardiac Syndrome: A Comprehensive Medical Review Introduction Hamel cerebro-palato-cardiac syndrome is an extremely rare X-linked intellectual disability syndrome first described by Hamel and colleagues, characterized by the triad of severe intellectual disability, craniofacial abnormalities including cleft palate, and congenital cardiac defects. According to Orphanet, the European reference portal for rare diseases, this …