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An eponymous disease is a disease, disorder, condition, or syndrome named after a person, usually the physician or other health care professional who first identified the disease; less commonly, a patient who had the disease; rarely, a literary character who exhibited signs of the disease or an actor or subject of an allusion, as characteristics associated with them were suggestive of symptoms ...
Prevalence is similar for men and women. The rate of occurrence is highest in peoples of Western European descent, averaging around seven per 100,000 people, and is lower in the rest of the world; e.g., one per million people of Asian and African descent. A 2013 epidemiological study of the prevalence of Huntington's disease in the UK between ...
Trisomy 21. Down syndrome (also known by the karyotype 47,XX,+21 for females and 47,XY,+21 for males) [98] is mostly caused by a failure of the 21st chromosome to separate during egg or sperm development, known as nondisjunction. [91] As a result, a sperm or egg cell is produced with an extra copy of chromosome 21; this cell thus has 24 ...
Werner syndrome is named after the German scientist Otto Werner. [4] He identified the syndrome in four siblings observed with premature aging, which he explored as the subject of his dissertation of 1904. [5] It has a global incidence rate of less than 1 in 100,000 live births [6] (although incidence in Japan and Sardinia is higher, affecting ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Any pregnant woman can have a child with trisomy 18, but the odds go up as a woman gets older. Trisomy 18 is usually so severe that babies who survive after birth are given comfort care, the ...
1 per 5,000 births [3] Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. [3] Many parts of the body are affected. [3] Babies are often born small and have heart defects. [3] Other features include a small head, small jaw, clenched fists with overlapping ...
Hematology. Von Willebrand disease (VWD) is the most common hereditary blood-clotting disorder in humans. An acquired form can sometimes result from other medical conditions. [1] It arises from a deficiency in the quality or quantity of von Willebrand factor (VWF), a multimeric protein that is required for platelet adhesion.