Mindblown: a blog about philosophy.

Aicardi syndrome is a very rare genetic disorder that was first identified. It was originally described as consisting of a triad of primary features: infantile spasms, chorioretinal lacunae, and agenesis of the corpus callosum. The condition has been given several other names, generally by combining descriptions of the primary features (e.g., chorioretinal anomalies-corpus callosum agenesis-infantile…

Agenesis of the corpus callosum (ACC) is a congenital disorder characterized by partial to complete absence of the corpus callosum. The incidence of the disorder is difficult to estimate because many individuals with ACC are relatively asymptomatic and may never present for evaluation. However, Ashwal (1994) reports that ACC occurs in approximately 1-3 births per…

Primary agammaglobulinemias are a group of rare immune deficiencies characterized by a lack of antibodies to fight disease and by dysfunction of B lymphocytes (specialized white blood cells that produce antibodies). Other names for this syndrome include antibody deficiency, gammaglobulin deficiency, and immunoglobulin deficiency. There are many subdivisions of primary agammaglobulinemia that describe the specific…

Congenital afibrinogenemia is a rare blood disorder that causes improper clotting of the blood. It is also referred to as hypofibrinogenemia. Afibrinogenemia is an inherited condition that is caused by an autosomal recessive gene. It is found in both males and females.  

Adrenocorticotropic hormone (ACTH) deficiency, sometimes referred to as secondary adrenal insufficiency, is a rare (affecting fewer than 1 in 100,000) and potentially life-threatening form of adrenocortical failure in which there is partial or complete lack of ACTH production and secretion by the anterior pituitary gland. ACTH acts to stimulate release of cortisol from the adrenal…

Acromicric dysplasia is a rare bone deformity mainly characterized by reduced bone growth; this results in facial anomalies, short limbs, and abnormally limited growth. It is very closely linked to geleophysic dysplasia, sharing many of the same characteristics, and there has been speculation as to whether these two are in fact the same disorder but…

Acromesomelic dysplasia is a form of dwarfism characterized by premature fusion of the areas of growth (epiphyses) in the long bones of the arms and legs. Affected individuals have severely shortened forearms, lower legs, and short stature (short-limbed dwarfism).    

Acrodysostosis is also called acrodysplasia, Arkless- Graham syndrome, or Maroteaux-Malamut syndrome. It is an extremely rare disease in which bones and skeleton are deformed. The hands and feet are short with stubby fingers and toes. The cause of the disease is unknown at this time Both sexes are equally likely to be affected. It tends…

Acrocallosal syndrome (ACS) is a genetic disorder that is apparent at birth. The disorder is typically characterized by underdevelopment or absence of the corpus callosum and by mental retardation. However, other associated symptoms may be variable, even among affected members of the same family.