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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:
In X-linked dominant inheritance, when the mother alone is the carrier of a mutated, or defective gene associated with a disease or disorder; she herself will have the disorder. Her children will inherit the disorder as follows: Of her daughters and sons: 50% will have the disorder, 50% will be completely unaffected.
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 ...
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]
Leber's congenital amaurosis (LCA) is a collection of inherited, degenerative eye disorders that can reduce the strength of visual clarity or sharpness in infants and can cause childhood blindness. [ 14 ] [ 15 ] These eye disorders are mostly autosomal recessive diseases, and diagnoses of LCA are linked to multiple gene variants, including the ...
The unborn baby can become infected at any time during the pregnancy. [4] Most cases occur due to inadequate antenatal screening and treatment during pregnancy. [8] The baby is highly infectious if the rash and snuffles are present. [4] The disease may be suspected from tests on the mother; blood tests and ultrasound. [9]