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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.
The term childhood disease refers to disease that is contracted or becomes symptomatic before the age of 18 or 21 years old. Many of these diseases can also be contracted by adults. Some childhood diseases include:
List of congenital disorders. 1 language. ... Rare disease This page was last edited on 28 September 2024, at 13:01 (UTC). Text is available under the Creative ...
Hereditary breast–ovarian cancer syndrome; Hereditary hyperbilirubinemia; Hereditary leiomyomatosis and renal cell cancer syndrome; Hereditary neuralgic amyotrophy; Hereditary nonpolyposis colorectal cancer; Hermansky–Pudlak syndrome; Hero syndrome; Heyde's syndrome; High-rise syndrome; HIV/AIDS; Holiday heart syndrome; Holt–Oram syndrome ...
This list is incomplete; you can help by adding missing items. ( May 2016 ) Fetal abnormalities are conditions that affect a fetus or embryo , are able to be diagnosed prenatally, and may be fatal or cause disease after birth.
The Bloom's Syndrome Registry lists 283 individuals reported to have this rare disorder (as of 2020), [27] collected from the time it was first recognized in 1954. The registry was developed as a surveillance mechanism to observe the effects of cancer in the patients, which has shown 122 [28] individuals have been diagnosed with cancer. It also ...
The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. [1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders
Familial adenomatous polyposis is a cancer syndrome in which there are hundreds to thousands of benign adenomas in the colon.. A hereditary cancer syndrome (familial/family cancer syndrome, inherited cancer syndrome, cancer predisposition syndrome, cancer syndrome, etc.) is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the ...