Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal recessive genetic disorder characterized by malformations of the skull skin fingers and genitals. Affected individuals may also have malformations of the […]
List of articles in "Disease" category - Page 235
Chronic neutrophilic leukemia
Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative disorder that features a persistent neutrophilia in peripheral blood myeloid hyperplasia in bone marrow hepatosplenomegaly and the absence of the Philadelphia chromosome […]
Perforated ulcer
A perforated ulcer is a very serious condition where an untreated ulcer can burn through the wall of the stomach (or other areas of the gastrointestinal tract) allowing digestive juices […]
Environmental dependency syndrome
Environmental dependency syndrome is a syndrome where the affected individual relies on environmental cues in order to accomplish goals or tasks. It is a disorder in personal autonomy that is […]
Diabetes mellitus and deafness
Diabetes mellitus and deafness (DAD) or Maternally inherited diabetes and deafness (MIDD) is a subtype of diabetes which is caused from a point mutation at position 3243 in human mitochondrial […]
Potassium-aggravated myotonia
Potassium-aggravated myotonia is a rare genetic disorder that affects skeletal muscle. Beginning in childhood or adolescence people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles […]
T-cell prolymphocytic leukemia
T-cell-prolymphocytic leukemia (T-PLL) is a mature T-cell leukemia with aggressive behavior and predilection for blood bone marrow lymph nodes liver spleen and skin involvement. T-PLL is a very rare leukemia […]
Peliosis hepatis
Peliosis hepatis is an uncommon vascular condition characterised by randomly distributed multiple blood-filled cavities throughout the liver. The size of the cavities usually ranges between a few millimetres to 3 […]
Eosinophilic gastroenteritis
Eosinophilic gastroenteritis (EG) is a rare and heterogeneous condition characterized by patchy or diffuse eosinophilic infiltration of gastrointestinal (GI) tissue first described by Kaijser in 1937 . Presentation may vary […]
Acrodysostosis
Acrodysostosis also known as Arkless-Graham syndrome or Maroteaux-Malamut syndrome is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet Intellectual_disability in approximately […]