56. Mallory-Weiss Tear Definition Mallory-Weiss tear is upper gastrointestinal bleeding produced by longitudinal mucosal lacerations (tears) at the gastroesophageal junction (cardiac sphincter). Initiation of the tear (and bleeding) can occur…
89. Wolff-Parkinson-White Syndrome Definition Wolff-Parkinson-White syndrome (WPW) is a paroxysmal tachycardia or atrial fibrillation associated with a preexcitation syndrome, characterized by a short P-R interval and a wide QRS complex…
87. Williams Syndrome Definition Williams syndrome is a rare genetic disorder that results in hypercalcemia, cardiovascular anomalies, neurodevelopmental and/or behavioral problems, and development of distinct facial features. Incidence The incidence…
46. Hydrocephalus Definition Hydrocephalus is a disturbance or interruption of the formation, flow, or absorption of cerebrospinal fluid. All types of hydrocephalus culminate in increased volume of fluid within the…
49. Klippel-Feil Syndrome Definition Klippel-Feil syndrome is a rare congenital disorder in which any two of the seven cervical vertebrae are absent or fused, resulting in a short neck with…
84. Tyrosinemia Definition Tyrosinemia is an aminoacidopathy of tyrosine metabolism with elevated serum and urinary tyrosine excretion and related metabolites. Type I results in inhibition of some renal tubular function….
85. von Willebrand Disease Definition von Willebrand disease (vWD) is a bleeding disorder resulting from an autosomally inherited defect that causes a deficiency, or absence, of von Willebrand factor. This…
83. Systemic Lupus Erythematosus Definition Systemic lupus erythematosus (SLE) is a chronic, generalized, multifaceted inflammatory disorder that can affect every organ. SLE is categorized as an autoimmune disease characterized by…
82. Sydenham’s Chorea Definition Sydenham’s chorea (SC) is a self-limiting disorder most often seen in children from 5 to 15 years of age. It may also manifest during pregnancy. This…
48. Kearns-Sayre Syndrome Definition Kearns-Sayre syndrome is a very rare mitochondrial DNA disorder in which there is marked heterogenicity along with various inheritance patterns. It is distinguished by three features:…
