In babies genetic disorders are caused by an anomaly in the DNA. Subtraction, addition or mutation of genes is indications of genetic diseases in babies. Let's understand the susceptibility of the human fight to genes and their expressions.
As we know that genes are tiny, microscopic segments of DNA. These are involved in producing a polypeptide chain and got an important role in the creation of life because in the absence of these genes there would be no organism. These genes are considered as a unit of heredity. Parents donated their genes to their progeny that result in babies; these babies are almost identical to their parents. These genes would pass on from generation to generation. If a single fault occurs in the expression of genes, this would result in a genetic disorder. These disorders may lead to various conditions that may disturb the baby's life forever.
The earth's most devastating news is when the parents have their child with a genetic disorder. Most of the time parents find no cure for their child and this may affect the baby's whole life. In this situation their children has to live throughout his life. To control the effects of genetic disorders there are some medications and therapies given to the babies. Mostly genetic disorders occur because of chromosomal aberration or hereditary condition. Babies have different types of genetic disorders. Given below are some disorders in babies;
â€¢ Single Gene Disorders: This disorder is caused by a mutation in a single gene. This would result in a gene to be altered or cause protein product become missing. Here are some diseases that are inherited from parents to child. These diseases will help understand the genetic disorders in babies.
â€¢ Cystic fibrosis (is the most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known)
â€¢ Adenosine deaminase or ADA deficiency
â€¢ Klinefelter syndrome (a syndrome in males that is characterized by small testes and long legs and enlarged breasts and reduced sperm production and mental retardation; a genetic defect in which an extra X chromosome (XXY) is present in the male)
â€¢ Sickle cell disease (sickle cell anemia)
â€¢ Down syndrome (is a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation)
â€¢ Turner syndrome (is chromosomal disorder in females who have only one X chromosome; marked by dwarfism and heart abnormalities and underdeveloped sex organs)
â€¢ Alpha-1 antitrypsin deficiency
â€¢ Severe Combined Immunodeficiency (SCID)
â€¢ Cri-du-Chat syndrome
â€¢ Huntington's Disease (is a hereditary disease; develops in adulthood and ends in dementia)
â€¢ Chromosomal Abnormality: Chromosomal aberrations occur when the entire or large segment of chromosome is duplicated, missing or altered due to mutation.
â€¢ Multifactorial Disorders: This type of disorder takes place when there are multiple mutations in multiple genes. Multifactorial disorders are often tied with environmental factors. Consequently, they appear mostly in adulthood. Some examples of multifactorial disorders includes;
â€¢ Breast cancer
â€¢ Alzheimer's disease
â€¢ Ovarian cancer
â€¢ Mitochondrial Disorders: These types of genetic abnormalities affect the energy producing cells. This could result in a complete close down of energy supply to different areas of cells and may cause;
â€¢ Muscle weakness
â€¢ Seizures (is a sudden occurrence (or recurrence) of a disease)
â€¢ Hearing loss
â€¢ Diabetes mellitus and deafness
â€¢ Leigh syndrome (is a rare neurometabolic disorder that affects the central nervous system)
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