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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 ...
The cause of the extra full or partial chromosome is still unknown. [92] Most of the time, Down syndrome is caused by a random mistake in cell division during early development of the fetus, but not inherited, [93] and there is no scientific research which shows that environmental factors or the parents' activities contribute to Down syndrome ...
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.
Another 10–13% of anomalies have a purely environmental cause (e.g. infections, illness, or drug abuse in the mother). Only 12–25% of anomalies have a purely genetic cause. Of these, the majority are chromosomal anomalies. [96] Congenital disorders are not limited to humans and can be found in a variety of other species, including cattle.
Frequency. 1 in 7,500 to 1 in 20,000 [4] Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. [2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [2] Mild to moderate intellectual disability is observed, particularly ...
There are many known environmental, genetic, and biological causes of autism. Research indicates that genetic factors predominantly contribute to its appearance. The heritability of autism is complex and many of the genetic interactions involved are unknown. [1] In rare cases, autism has been associated with agents that cause birth defects. [4]
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. [6][7][1] Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. [1] They also typically have exceptionally flexible joints and abnormally curved spines. [1]
Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.