Congenital disorder

DNA is the genetic code that exists in all living organisms. Usually, DNA is replicated with the same genetic information. However, there are some mistakes which occur during the DNA replication, which will result in some complications and abnormalities in genes leading to genetic diseases.128 So the identification of genetic mutations is an important component in the early diagnosis of many types of diseases and undesirable behaviors. Genetic testing is usually required for a diagnostic reason if

Abstract Congenital Insensitivity to Pain Other known as CIP has an unexplained reason as to why it happens to some but not others. Some symptoms of are recurring fevers, ability to sweat, No reaction to painful scenarios,and self mental retardation. The genetic basis for CIP is unknown as of right now. It is apart of the family disorder called HSAN which stand for hereditary sensory and autonomic neuropathy. Most people that have a disorder involving HSAN have some form of lose between pain and

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are both congenital neurological disorders that cause physical and mental impairment. There are many ways to get AS and PWS, but genomic imprinting is the most common cause. AS is typically misdiagnosed as Cerebral Palsy or Autism and symptoms for AS and PWS may vary between patients. There is no cure for AS or PWS, but physical and mental therapy can help. AS is caused by a deletion or mutation on the maternal chromosome 15, alteration in UBE3A

Syndrome also known as oculoauriculovertebral dysplasia is a craniofacial syndrome which causes abnormalities in the formation of the face and head. It was first documented in 1952 by Maurice Goldenhar, which is how it earned its name. It is a rare congenital disease that is apparent at birth. “Goldenhar Syndrome happens in one in every 3,000 to 5,000 births” (The Childrens Hospital of Philidelphia, 2016). This syndrome usually only affects one side of the face, but 10% of cases effects both sides. There

palsy, and about 8 hundred thousand in the United States. Approximately 8 thousand people are diagnosed with Cerebral palsy in the United States each year. Having Cerebral palsy can have a major impact on someone's life. Cerebral palsy is a congenital disorder of movement, muscle tone, or posture. It is caused by damage to one or more areas in the brain that involves one of those. People who have cerebral palsy are unable to control all their movements. Cerebral palsy can be treated to get the symptoms

Approximately 120,000 babies are born each year with a genetic disease or major genetic birth defect ("Inherited Disorders and Birth Defects"). It is 2014 and our generation still has thousands of babies with genetic diseases born each year and that isn’t right. These diseases range from phenylketonuria, a genetic disorder that causes mental retardation if left untreated, to congenital heart disease which has a 51 percent mortality rate in infants with the condition ("Mortality Associated...”).

and daytime sleepiness, no matter how much time you spent in bed? Does your partner complain that you snore extremely loudly? The reason for these are that there're some sleep-related disorders that weaken the quality of life and sleep apnea is one such kind. Some facts about sleep apnea It's defined as a disorder characterized by interruptions of breathing during a single night's sleep. Your breathing temporarily pauses for a few seconds to minutes while sleeping due to blockage of the upper airways

If there is one genetic disease you do not want, it is Deletion Syndrome. Deletion Syndrome is a disorder caused by a defect in chromosome 22. Also, this genetic disease can affect many parts of the body. People with Deletion Syndrome have a small piece of chromosome 22 missing, which is the microdeletion. This Microdeletion involves many genes. Deletion Syndrome is also called 22q. There are many parts that get affected by this, many parts of the body.. For example, one of the parts that get affected

Damage Can Unlock the Genius Within Imagine you are peacefully Black Friday shopping in a crowded mall. All of the sudden you get savagely attacked by two men. This incident leaves you with a severe concussion and post traumatic stress disorder, not to mention it also leaves you without all the sweet deals you were going to get. Aside from all the bad consequences, this attack turns you into a mathematical genius. Although, this scenario might seem impossible, it happens. It's called Acquired

Polycystic kidney disease (PKD) is a severe form of hereditary disease which results from a monogenic disorder. The disease causes enlargement alongside with functional impairment. It results in clusters of cysts mainly within the kidneys. Cysts are noncancerous round sacs consisting of water like fluid which vary in size depending on its accumulating growth (Mayo Clinic Staff, 2014). This cystic disease consists of two forms, an autosomal dominant PKD (ADPKD) and an autosomal recessive PKD (ARPKD)