Klippel-Feil Syndrome
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…
Hydrocephalus
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…
Tyrosinemia
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….
von Willebrand Disease
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…
Systemic Lupus Erythematosus
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…
Kearns-Sayre Syndrome
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:…
Sydenham’s Chorea
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…
Shy-Drager Syndrome
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…
Hydatidiform Mole
45. Hydatidiform Mole Definition Hydatidiform mole encompasses several conditions, including complete and partial moles, placental site trophoblastic tumors, choriocarcinomas, and invasive moles. Complete moles are devoid of any fetal tissue…
Recurrent Respiratory Papillomatosis
75. Recurrent Respiratory Papillomatosis Definition Recurrent respiratory papillomatosis (RRP) is a manifestation of infection by the human papilloma virus (HPV) anywhere within the entire respiratory tract/system, from the nose into…
