Osteogenesis Imperfecta
65. Osteogenesis Imperfecta Definition Osteogenesis imperfecta (OI), one of the most common skeletal dysplasias, is inherited via autosomal dominant mutation(s). It is produced by defective biosynthesis of type I collagen,…
Nephrotic Syndrome
61. Nephrotic Syndrome Definition Nephrotic syndrome is a clinical condition or group of disorders that involves defective kidney glomeruli with massive proteinuria, lipiduria with edema, hypoalbuminemia, and hyperlipidemia. It is…
Neurofibromatosis
62. Neurofibromatosis Definition Neurofibromatosis is a familial, multisystem, genetic disorder characterized by developmental changes in the nervous system, muscles, bones, and skin. It is marked by the formation of neurofibromas…
Marfan Syndrome
57. Marfan Syndrome Definition Marfan syndrome is an autosomal dominant genetic defect of the connective tissue protein, fibrillin. It results in myriad clinical problems, predominately in the cardiac, musculoskeletal, and…
Zollinger-Ellison Syndrome
91. Zollinger-Ellison Syndrome Definition Zollinger-Ellison syndrome (ZES) is a typical, intractable, possibly fulminating, peptic ulcer associated with extreme gastric hyperacidity. Incidence In the United States ZES is estimated to occur…
Mallory-Weiss Tear
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…
Zenker’s Diverticulum
90. Zenker’s Diverticulum Definition Zenker’s diverticulum is a rare pulsion disorder consisting of an esophageal mucosal herniation posteriorly between the cricopharyngeal muscle and the inferior pharyngeal constrictor muscle (at the…
Malignant Atrophic Papulosis
55. Malignant Atrophic Papulosis Definition Malignant atrophic papulosis (MAP) was originally described as a variant of thromboangiitis obliterans, but was quickly recognized to be a distinct disease entity. MAP is…
Wolff-Parkinson-White Syndrome
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…
Williams Syndrome
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…
