List of articles in "Disease" category - Page 231

Galactose-1-phosphate uridylyltransferase deficiency also called galactosemia type 1 classic galactosemia or GALT deficiency is the most common type of galactosemia an inborn error of galactose metabolism caused by a deficiency […]

Urban–Rogers–Meyer syndrome also known as Prader–Willi habitus osteopenia and camptodactyly or Urban syndrome is an extremely rare inherited congenital disorder first described by Urban et al. (1979). It is characterized […]

Upington disease also called Perthes-like hip disease enchondromata and ecchondromata is an extremely rare autosomal dominant malformation disorder having only one published source claiming its existence on one family in […]

Uncombable hair syndrome also known as Pili trianguli et canaliculi Spun-glass hair and Cheveux incoiffables is a rare structural anomaly of the hair with a variable degree of effect. It […]

Essential fructosuria caused by a deficiency of the enzyme hepatic fructokinase is a clinically benign condition characterized by the incomplete metabolism of fructose in the liver leading to its excretion […]

Brown-Séquard syndrome also known as Brown-Séquard’s hemiplegia and Brown-Séquard’s paralysis is a loss of sensation and motor function (paralysis and anesthesia) that is caused by the lateral hemisection (cutting) of […]

Umbilical cord ulceration and intestinal atresia is a rare congenital disease that leads to intestinal atresia umbilical cord ulceration and severe intrauterine haemorrhage. Only 15 cases have so far been […]

Renal dysplasia-limb defects syndrome (RL syndrome) also known as Ulbright–Hodes syndrome is a very rare autosomal recessive congenital disorder. It has been described in three infants all of whom died […]

Camptodactyly is a medical condition involving fixed flexion deformity of the proximal interphalangeal joints. This involves permanent flexure of one or more phalanges (fingers) and the fifth finger is always […]