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Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Not all heterozygotes for recessive lethal alleles will show a mutant phenotype, as is the case for cystic fibrosis carriers. If two cystic fibrosis carriers have children, they have a 25 percent chance of producing offspring having two copies of the allele, eventually resulting in the death of the child without intensive treatment. [9]
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.
Cystic fibrosis; Cytomegalovirus (the virus most frequently transmitted before birth) Dental caries; Type 1 diabetes; Diphtheria; Duchenne muscular dystrophy; Fifth disease; Congenital Heart Disease; Infectious mononucleosis; Influenza; Intussusception (medical disorder) Juvenile idiopathic arthritis; Leukemia; Measles; Meningitis; Molluscum ...
Common chronic illnesses in children include asthma, diabetes, cystic fibrosis, obesity and overweight, malnutrition, developmental disabilities and differences, and mental illness. [7] Leading causes of poor outcomes due to childhood chronic illness, however, depend on geographic region.
Blue baby syndrome can refer to conditions that cause cyanosis, or blueness of the skin, in babies as a result of low oxygen levels in the blood. This term has traditionally been applied to cyanosis as a result of:. [1]
Different countries support the screening for a number of metabolic disorders (inborn errors of metabolism (IEM)), and genetic disorders including cystic fibrosis and Duchenne muscular dystrophy. [ 100 ] [ 102 ] Tandem mass spectroscopy can also be used for IEM, and investigation of sudden infant death, and shaken baby syndrome.
Dorothy Hansine Andersen (May 15, 1901 – March 3, 1963) was the American physician and researcher who first identified and named cystic fibrosis.During her almost thirty year tenure at Babies Hospital of Columbia-Presbyterian Medical Center (now Morgan Stanley Children's Hospital), Andersen not only identified CF and its inheritance through a recessive gene, she was also at the forefront of ...