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…
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…
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…
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…
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:…
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…
78. Shy-Drager Syndrome Definition Shy-Drager syndrome (SDS) is a sporadic, rare, progressive neurodegenerative disease characterized by features of parkinsonism, autonomic failure, and cerebellar or pyramidal dysfunction. Shy-Drager syndrome is also…
