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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.
Chromosome abnormality. A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. [1][2] These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural ...
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause ...
Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. [ 1 ] Its name is a French term ("cat-cry" or " call of the cat ") referring to the characteristic cat-like cry of affected children (sound sample [1]). [ 2 ] It was first described by Jérôme Lejeune in 1963. [ 3 ]
Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. [ 2 ] In newborns, symptoms include weak muscles, poor feeding, and slow development. [ 2 ] Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. [ 2 ]
In the United States, the Rare Diseases Act of 2002 defines rare disease strictly according to prevalence, specifically "any disease or condition that affects fewer than 200,000 people in the United States", [ 7 ] or about 1 in 1,500 people. This definition is essentially the same as that of the Orphan Drug Act of 1983, a federal law that was ...
Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs. It is caused by a mutation in the ESCO2 gene.
Wolfram syndrome. Wolfram syndrome, also called DIDMOAD (d iabetes i nsipidus, d iabetes m ellitus, o ptic a trophy, and d eafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration.
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