Congenital disorder

foundation provides detailed history about the syndrome, history, statistics and advances in genetic testing . Down Syndrome was named after John Langdon down, an English doctor, who classified Down syndrome features. Down Syndrome is a congenital genetic disorder, characterized by three copies

Prenatal testing detects changes in a fetus’ genes or chromosomes before birth. This specific type of testing during pregnancy can help parents make decisions about a pregnancy, but cannot identify all possible disorders or birth defects. (Campbell, Reece, Mitchell). It is one of the most basic genetic tests. Another form of genetic testing done before birth is called preimplantation testing, or preimplantation genetic diagnosis (PGD). Its purpose is to detect genetic changes in embryos that were

right hand to determine surgery options for removal of the extra digit. • Symptoms: no symptoms • Procedures ordered: 3 view hand x-ray which included PA, oblique, and lateral Diagnosis: Polydactyl Description of the Disease: • Classification: Congenital • Etiology: Mutations of chromosome 7. Rare genetic causes: Laurence-Moon-Bardet-Biedl Syndrome (LMBBS), Ellis-van Creveld syndrome, and Acrocallosal syndrome. • Physiological Effects: Range of motor skills- completely immobile, limited dexterity

birth. Occur at the first month of pregnancy and is a neural tube defect where the spine bones are not fully formed protruding meninges and SP from the child's back but the spinal cord remains inalterable in it anatomical place. There is other congenital disorders that may be also present combined with myelomeningocele such as hydrocephalus. This peculiar newborn condition have an open space fluid filled area from the mid to lower back. Myelomeningocele is been found post born, during a neurologic exam

cause for the development and continuous growth on this type of disorder has a huge effect from the media. Most often we tend to copy what we see and go for what the society conforms as the trend. More often, other people may have different reasons behind this which lead us to this paper. This was the reason for the curiosity of the researchers to seek for answers on the following problem: 1. What are the different Eating Disorders? 2. What are the possible solutions to aid on this problem? 2. What

and more are being developed. What are some of the types of genetic test? Newborn screening is one type and done is just after birth to identify genetic disorders that can be treated early in life. The test that are done in all states on newborns are for phenylketonuria, and congenital hypothyroidism and some states do testing for other disorders as well. Another type of test is diagnostic testing which is used to identify or rule out a specific genetic or chromosomal condition. The third type of

Hemophilia describes a group of sever congenital coagulation factor deficiencies. It is a lifelong genetic disorder with a prevalence of 1:10,000 birth and that of the most severe form of the disease to be approximately 6% per 1,00,000 Population (1). Depending on the activity of coagulant factor VIII or IX in blood, hemophilia may be labeled as severe (<1% of normal), moderate (1–4%) or mild (5–25%) (2) . hemophilia is characterized by recurrent haemarthroses inside the less muscular padding joints

health can become compromised due to environmental factors, or genetic mutations. When skin’s protection gets compromised the skin looses its balance and it manifest as: inflammation, redness, scaly, dry, and hypersenstative skin. Examples of genetic disorders that can cause such abnormalities in the skin are peeling skin syndrome, and porphyria.

Cerebral palsy (CP) is a neurological disorder that resulted from a defect in the brain before, at birth, or after birth (CDC, 2014). In other words, CP affects body movement and muscles by hindering the muscles from performing regular activity such as walking (Straub & Obrzut, 2009). The common known cause of brain damage during birth is asphyxia, which means lack of oxygen (CDC, 2014). However, new studies suggested that cerebral palsy related to various causes such as viral infections. In addition

the potential to cause great anxiety, and some people would argue that they have a right not to know about their genetic condition. Nevertheless, such diseases commonly affect the people who are surrounding the individual with such diseases and disorders as well. Also, if an individual has a genetic mutation or defect, which might suspect that other siblings in the same family might have a great possibility of attaining the same defect or mutation, or they could be carriers for the defect [3].