List of articles in "Disease" category - Page 282

Conradi–Hünermann syndrome (also known as Conradi–Hünermann–Happle syndrome Happle syndrome and X-linked dominant chondrodysplasia punctata) is a type of chondrodysplasia punctata. It is associated with the gene EBP (gene) and affects […]

Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia) seizures recurrent respiratory tract infections and congenital cataracts.

Cheilitis (pronounced /kaɪˈlaɪtɪs/) is inflammation of the lips. This inflammation may include the perioral skin (the skin around the mouth) the vermilion border and/or the labial mucosa. The skin and […]

Koilonychia (from the Greek: koilos- hollow onikh- nail) also known as spoon nails is a nail disease that can be a sign of hypochromic anemia especially iron-deficiency anemia. It refers […]

Maroteaux–Lamy syndrome (also known as mucopolysaccharidosis type VI MPS VI or polydystrophic dwarfism) is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B (ARSB). It is named after […]

Hypohidrotic ectodermal dysplasia (also known as Anhidrotic ectodermal dysplasia and Christ-Siemens-Touraine syndrome) is one of about 150 types of ectodermal dysplasia in humans. Before birth these disorders result in the […]

Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase (UROD).It has a similar presentation to porphyria cutanea […]

Erythropoietic porphyria is a type of porphyria associated with erythropoietic cells. In erythropoietic porphyrias the enzyme deficiency occurs in the red blood cells.There are three types:X-linked sideroblastic anemia or X-linked […]

Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis (CTX) also called cerebral cholesterosis is an autosomal recessive form of xanthomatosis. It falls within a group of genetic disorders called the leukodystrophies.

Hypersalivation (also called ptyalism and sialorrhea) is excessive production of saliva. It has also been defined as increased amount of saliva in the mouth which may also be caused by […]