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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 CDC and National Birth Defect Project studied the incidence of birth defects in the US. Key findings include: 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.
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.
This list is incomplete; you can help by adding missing items. ( May 2016 ) 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.
Most congenital heart defects are not associated with other diseases. [3] A complication of CHD is heart failure. [2] Congenital heart defects are the most common birth defect. [3] [11] In 2015, they were present in 48.9 million people globally. [8] They affect between 4 and 75 per 1,000 live births, depending upon how they are diagnosed.
The stigma persists, however, despite it being one of the most common birth defects in the U.S. Our son has had multiple surgeries to address his palate and cleft, and there are more to come.
The most common congenital diseases are heart defects, Down syndrome, and neural tube defects. Trisomy 21 is the most common type of Down Syndrome. About 95% of infants born with Down Syndrome have this disorder and it consists of 3 separate copies of chromosomes.