Hypoglossia is a short incompletely developed tongue. It can occur either as an isolated malformation or in association with other deformities particularly limb defects in a syndrome known as oromandibular […]
List of articles in "Disease" category - Page 309
Halal syndrome
Halal syndrome is a rare disorder characterised by microcephaly cleft palate and variable other anomalies.
Beta thalassemia
Beta thalassemias (β thalassemias) are a group of inherited blood disorders caused by reduced or absent synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe […]
Muscle atrophy
Muscle atrophy is defined as a decrease in the mass of the muscle; it can be a partial or complete wasting away of muscle. When a muscle atrophies this leads […]
Baritosis
Baritosis is a benign type of pneumoconiosis which is caused by long-term exposure to barium dust.Barium has a high radio-opacity and the disease may develop after few months of exposure. […]
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is […]
2-Methylbutyryl-CoA dehydrogenase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency also called 2-Methylbutyryl glycinuria or short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) is an autosomal recessive metabolic disorder. It causes the body to be unable to process the amino […]
Autonomic dysreflexia
Autonomic dysreflexia (AD) also known as autonomic hyperreflexia is a potentially life threatening condition which can be considered a medical emergency requiring immediate attention. AD occurs most often in spinal […]
Larsen syndrome
Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they observed dislocation of the large joints and face anomalies in six of their patients. […]
Dirofilariasis
Dirofilariasis is an infection by parasites in the Dirofilaria genus.It can be caused by: Dirofilaria immitis Dirofilaria repens