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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.
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. They may include aneuploidies, structural abnormalities, or neoplasms. Acardiac twin; Achondrogenesis; Achondroplasia
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.
Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis
Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.
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 ...
Miscellaneous multisystem diseases. Cystic fibrosis (CF) > 1 in 5,000; Congenital hypothyroidism (CH) > 1 in 5,000; Biotinidase deficiency (BIOT) > 1 in 75,000; Congenital adrenal hyperplasia (CAH) > 1 in 25,000; Classical galactosemia (GALT) > 1 in 50,000; Newborn screening by other methods than blood testing. Congenital deafness (HEAR) > 1 in ...
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]