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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.
Due to the wide range of genetic disorders that are known, diagnosis is widely varied and dependent of the disorder. Most genetic disorders are diagnosed pre-birth, at birth, or during early childhood however some, such as Huntington's disease, can escape detection until the patient begins exhibiting symptoms well into adulthood. [35]
A diagnosis can often be suspected based on the child's physical appearance at birth. [10] An analysis of the child's chromosomes is needed to confirm the diagnosis, and to determine if a translocation is present, as this may help determine the chances of the child's parents having further children with Down syndrome. [10]
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:
Genetic causes of birth defects include inheritance of abnormal genes from the mother or the father, as well as new mutations in one of the germ cells that gave rise to the fetus. Male germ cells mutate at a much faster rate than female germ cells, and as the father ages, the DNA of the germ cells mutates quickly.
A vertically transmitted infection is an infection caused by pathogenic bacteria or viruses that use mother-to-child transmission, that is, transmission directly from the mother to an embryo, fetus, or baby during pregnancy or childbirth. It can occur when the mother has a pre-existing disease or becomes infected during pregnancy. Nutritional ...
An affected child can be treated using antibiotics much like an adult; however, any developmental symptoms are likely to be permanent. [32] The greater the duration between the infection of the mother and conception, the better the outcome for the infant including less chance of stillbirth or developing congenital syphilis. [33]
CIPA is caused by a genetic mutation that prevents the formation of nerve cells responsible for transmitting signals of pain, heat, and cold in the brain. The disorder is inherited in an autosomal recessive fashion. [6] CIPA is caused by a mutation in NTRK1, [6] a gene encoding the neurotrophic tyrosine kinase receptor. [7]