A genetic disorder is a disease or illness caused by the variation of a gene or an alteration called mutation. So to explain in a simple statement, these disorders are illnesses caused by abnormalities of the genes or chromosomes. Medical facts claim that most dangerous diseases have a genetic aspect. Life-threatening diseases like cancer where cells undergo a drastic change are caused by mutation in a single gene or a group of them in a person's cells. There is no proper explanation on what the causes are, it can be due to exposure to harmful radiation or even frequent smoking.
Most cases are due to inheritance. A mutated gene is passed down in every generation and the newborn inherits this which leads to disorders. However, it has also been observed that in various cases the issue begins with the extra several groups of genes called chromosomes.
Rare Genetic Disorders that Affect Children
Seeing a child born with a genetic disorder is disheartening for any family. To understand the situation better and know the diagnosis it is essential that you have the basic information on these medical conditions.
LMBBS or Laurence-Moon-Bardet-Biedl Syndrome is the main cause of extra toes or fingers, retinal degeneration, behavioral problems, various muscular disorders, obesity, and mental and verbal delays. Children suffering from LMBBS are often victims of stunted growth. The diagnosis of LMBBS focuses on making the child get over his social fears and making sure that he/she gets the required help needed for vision impairment and speech disorders. If you have a child or know someone suffering from LMBBS, seek help from The Laurence-Moon-Bardet-Biedl Society which is specially designed to help out such children.
One of the most dangerous genetic diseases, Trisomy 18 occurs when a baby has an extra number 18 chromosome. Children born with this condition do not live more than a year, but some are fortunate to live longer. Babies born with Trisomy 18 have very low birth weight and they have a difficult time breathing and swallowing. Some babies can survive, but this mutation is incurable. It's diagnosis focuses on teaching children basic gross motor skills. To know more information on this disease parents can reach out to the Trisomy 18 Foundation.
Fragile X Syndrome
The meaning of this disease is self-explanatory. Children suffering from Fragile X Syndrome suffer from a damaged or a broken X chromosome. The damaged chromosome is not able to create the protein it's supposed to make and this causes mental retardation, mood disorders and anxiety, autism and unusual speech patterns. Kids suffering from Fragile X Syndrome also have physical symptoms like flat feet, expendable joints, high palate and a long face. Treatment includes early training sessions which helps them to talk and improve their brain condition. To know more, get in touch with The National Fragile X Foundation.
TSC or Tuberous Sclerosis starts the growth of benign tumors in the vital organs of the body. These tumors cause a host of problems like seizures, developmental delays, and irregular behavioral patterns. Doctors focus on the removal of tumors and on administering seizure medication. Severe TSC can cause mental impairment, but it has also been observed that children with mild symptoms live a normal life. For more advice and support you can go The National Tuberous Sclerosis Alliance.
Children born with genetic abnormalities are either born with less or more number of chromosomes. Here's a list of the most common genetic conditions that affect children globally.
- Down's Syndrome (Children with one extra chromosome)
- Turner Syndrome (Common in girls, they have one X chromosome and are missing the second sex chromosome)
- Klinefelter Syndrome (Found only in boys, they have one Y chromosome and two X chromosomes)
- Angelman Syndrome (A missing segment on chromosome 15, this syndrome is inherited from the mother)
- Prader-Willi Syndrome (Another missing segment on chromosome 15, but this time this disorder is inherited from the father)
- Duchenne Muscular Dystrophy (Only found in boys, X chromosome is missing which means shortage of essential protein)
- Cystic Fibrosis (Kids suffering from CF have defective glands that produce large amounts of thick mucus which creates problems in effective breathing and digestion)
- Tay-Sachs Disease (Kids suffering from Tay-Sachs Disease suffer from a gene defect of the central nervous system. This defect prevents the formation of an enzyme which helps break down fatty substances in brain cells)
- Phenylketonuria (Children suffering from PKU have problems with the liver as it prevents the liver from producing an enzyme which breaks down phenylalanine. This accumulation of phenylalanine can prove toxic to the brain)
Scientists have still not been able to identify what triggers such disorders in humans, but they often blame the unhealthy lifestyle which most of us lead. So to be free of all the problems and to live a long and happy life, it's advised that you have a balanced diet and follow an exercise program religiously.
Disclaimer: This article is for informative purposes only, and should not be used as a replacement for expert medical advice.