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H&E stain. Specialty. Pediatrics. Congenital cytomegalovirus (cCMV) is cytomegalovirus (CMV) infection in a newborn baby. [1] Most have no symptoms. [1] Some affected babies are small. [1] Other signs and symptoms include a rash, jaundice, hepatomegaly, retinitis, and seizures. [1] [2] It may lead to loss of hearing or vision, developmental ...
Medical genetics. Congenital pulmonary airway malformation ( CPAM ), formerly known as congenital cystic adenomatoid malformation ( CCAM ), is a congenital disorder of the lung similar to bronchopulmonary sequestration. In CPAM, usually an entire lobe of lung is replaced by a non-working cystic piece of abnormal lung tissue.
Congenital hemolytic anemia (CHA) is a diverse group of rare hereditary conditions marked by decreased life expectancy and premature removal of erythrocytes from blood flow. Defects in erythrocyte membrane proteins and red cell enzyme metabolism, as well as changes at the level of erythrocyte precursors, lead to impaired bone marrow erythropoiesis.
Coeliac disease ( British English) or celiac disease ( American English) is a long-term autoimmune disorder, primarily affecting the small intestine, where individuals develop intolerance to gluten, present in foods such as wheat, rye and barley. [10] Classic symptoms include gastrointestinal problems such as chronic diarrhoea, abdominal ...
Ichthyosis (also named fish scale disease) [1] is a family of genetic skin disorders characterized by dry, thickened, scaly skin. [2] The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked ). [3]
Chronic diseases of malabsorption may affect the small intestine, including the autoimmune coeliac disease, infective tropical sprue, and congenital or surgical short bowel syndrome. Other rarer diseases affecting the small intestine include Curling's ulcer , blind loop syndrome , Milroy disease and Whipple's disease .
Congenital contractural arachnodactyly. Congenital contractural arachnodactyly ( CCA ), also known as Beals-Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. [1] As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes. [2]
