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The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. [1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders
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.
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 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.
Top health researchers from the Murdoch Children’s Research Institute (MCRI) in Australia have teamed with those from the Gladstone Institutes in San Francisco on the Decoding Broken Hearts ...
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
Generally, diseases outlined within the ICD-10 codes Q20-Q24 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category. Congenital heart disease is any disease due to an inborn defect in the heart that is present at birth.
Atrioventricular septal defect (AVSD) is an uncommon congenital heart condition characterized by faulty development of the heart's septa and valves. [88] [12] Congestive heart failure is common in infants with the entire version of the condition. [88] [12] Fluid builds up in other parts of the body, particularly the lungs.