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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. About 7,000 babies are born with a cleft palate, cleft lip or both.
Defects of biopterin cofactor biosynthesis [1] Defects of biopterin cofactor regeneration [1] Tyrosinemia III [1] Hypermethioninemia [1] Citrullinemia type II [1] Inborn errors of organic acid metabolism. Methylmalonic acidemia (Cbl C,D) [1] Malonic acidemia [1] 2-Methyl 3-hydroxy butyric aciduria [1] Isobutyryl-CoA dehydrogenase deficiency [1]
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
The NBDPN publishes its annual report in December Issue of the Journal of Birth Defects Research Part A (BDRA). The annual report has two parts: 1) a series of articles relating to various issues in surveillance, epidemiology, and the application of surveillance data to birth defects prevention and public health programs, and 2) statistical data from population-based surveillance programs ...
Alcohol-related birth defects: ARD Adult Refsum disease: ARDS Acute respiratory distress syndrome: ARND Alcohol-related neurodevelopmental disorder: ARM Anorectal malformation: AS Ankylosing spondylitis: AS Asperger syndrome: ASCVD Atherosclerotic cardiovascular disease: ASD Atrial septal defect: ASD(s) Autism spectrum disorders: ASHF Acute ...
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.
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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. Most cancers, although they involve genetic mutations to a small proportion of cells in the body, are acquired diseases.