List of articles in "Disease" category - Page 344

Blunt trauma blunt injury non-penetrating trauma or blunt force trauma refers to physical trauma caused to a body part either by impact injury or physical attack; the latter usually being […]

Gastric antral vascular ectasia (GAVE) is an uncommon cause of chronic gastrointestinal bleeding or iron deficiency anemia. The condition is associated with dilated small blood vessels in the antrum or […]

Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by an abnormal sensitivity of red blood cells to heat and erythrocyte morphology similar to that seen in […]

Familial male-limited precocious puberty often abbreciated as FMPP also known as familial sexual precocity or gonadotropin-independent testotoxicosis is a form of gonadotropin-independent precocious puberty in which boys experience early onset […]

Blue diaper syndrome is a rare autosomal recessive metabolic disorder characterized in infants by bluish urine-stained diapers.It is caused by a defect in tryptophan absorption. Bacterial degradation of tryptophan in […]

22q11.2 deletion syndrome which has several presentations including DiGeorge syndrome (DGS) DiGeorge anomaly velo-cardio-facial syndrome Shprintzen syndrome conotruncal anomaly face syndrome Strong syndrome congenital thymic aplasia and thymic hypoplasia is […]

Asymmetric crying facies (ACF) also called Cayler cardiofacial syndrome partial unilateral facial paresis and hypoplasia of depressor angula oris muscle is a minor congenital anomaly caused by agenesis or hypoplasia […]

Myoclonic epilepsy refers to a family of epilepsies that present with myoclonus. When myoclonic jerks are occasionally associated with abnormal brain wave activity it can be categorized as myoclonic seizure. […]

Otocephaly (From the Greek words οτο meaning “ear” and κεφάλη meaning head) is a type of head disorder (cephalic disorder). This is a lethal condition in which the primary feature […]

Acephaly is a congenital disorder characterised by absence of the head. Unlike anencephaly which is characterised by the absence of a major portion of the brain skull and scalp this […]