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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:
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]
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]
An example of how the environment within the womb can affect the health of an offspring is the Dutch hunger winter of 1944–45 and its causal effect on induced transgenerational epigenetic inherited diseases. During the Dutch hunger winter, the offspring exposed to famine conditions during the third trimester of development were smaller than ...
The fetal origins hypothesis (differentiated from the Developmental Origins of Health and Disease hypothesis, which emphasizes environmental conditions both before and immediately after birth) proposes that the period of gestation has significant impacts on the developmental health and wellbeing outcomes for an individual ranging from infancy to adulthood.
Recent studies indicate that one in every 2,500 children in the Navajo population inherit severe combined immunodeficiency. This condition is a significant cause of illness and death among Navajo children. [9] Ongoing research reveals a similar genetic pattern among the related Apache people. [10]
Iodine deficiency causes gradual enlargement of the thyroid gland, referred to as a goiter. Poor length growth is apparent as early as the first year of life. Adult stature without treatment ranges from 100 to 160 cm (3 ft 3 in to 5 ft 3 in), depending on severity, sex, and other genetic factors.