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The CDC and National Birth Defect Project studied the incidence of birth defects in the US. Key findings include: [ citation needed ] Down syndrome was the most common condition with an estimated prevalence of 14.47 per 10,000 live births, implying about 6,000 diagnoses each year.
Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis
Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a rare birth defect. It is a congenital disorder in which the fetal development of the lower spine—the caudal partition of the spine—is abnormal. [1] It occurs at a rate of approximately one per 60,000 live births. [2]
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.
Most genetic disorders are rare in themselves. [5] [8] Genetic disorders are present before birth, and some genetic disorders produce birth defects, but birth defects can also be developmental rather than hereditary. The opposite of a hereditary disease is an acquired disease.
Cyclopia (named after the Greek mythology characters cyclopes), also known as alobar holoprosencephaly, is the most extreme form of holoprosencephaly and is a congenital disorder (birth defect) characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities.
But on January 11, when Fisher gave birth, doctor's diagnosed her baby with a rare condition called Treacher Collins syndrome, which is a rare congenital disorder characterized by facial, such as ...
defects of genes on chromosome 3 and 18. Seckel syndrome , or microcephalic primordial dwarfism (also known as bird-headed dwarfism , Harper's syndrome , Virchow–Seckel dwarfism and bird-headed dwarf of Seckel [ 1 ] ) is an extremely rare congenital nanosomic disorder.