Congenital disorders

Chapter Five 5. Discussion Congenital disorders with intellectual disability (ID) constitute a particularly significant medical problem because of the high prevalence and life-long care that patients will need. The extreme genetic heterogeneity of ID is a major problem for pre- and postnatal diagnosis. In some cases, however, early detection of a mutation may be important to prevent the manifestation of the handicap (Avbelj et al. 2007). Congenital hypothyroidism (CH) is one of the most frequent

Your child has been diagnosed with a congenital heart defect known as L-Transposition of the Great Arteries, or Congenitally Corrected Transposition of the Great Arteries. This guide has been created to answer some of the more common questions that parents of children with this congenital heart defect may have. What causes this? While genetic factors may contribute to this heart defect, it is unknown what causes it. What is it? In a child with L-Transposition of the Great Arteries (l-TGA), the left

Albinism is a congenital disorder associated with partial or total lack of pigmentation of the skin. Scientifically, this is referred to as the Oculocutaneous albinism (OCA) (). This condition is genetically inherited, passed from parents with carrier genes or those already with the disorder to their off springs. OCA is subdivided into two categories, OCA1 and OCA 2. OCA 2 is the most prevalent type of albinism found in Africa. People living with albinism are more susceptible to negative social

Anencephaly is a congenital neurological disorder characterized by absence of the cerebrum and cerebellum, as well as the top of the skull, resulting in exposure of the brain stem. Even though the brain stem is exposed this does not mean that the babies brain or head is completely missing. This is considered one of the more serious birth defects that a baby can have because they baby will never have the brain power to grow and become an adult. Many of these babies are exposed to various infections

defect is “any congenital defect of the brain and spinal cord as a result of abnormal development of the neural tube.” This birth defect is “the most common congenital defect of the central nervous system, affecting the brain and/or spinal cord of 300,000 newborns worldwide each year” (Ricks et al., 2012, p. 391). The exact cause of these central nervous system defects is unknown, but there are many contributing factors that are evidenced to assist in the prevention of such a disorder. I will examine

Birth defects, or congenital malformations, are the faulty formation of structures or body parts present at birth. Sporadic, hereditary, or acquired defects may be immediately observed or may become manifest later in life; they may be visible on the body surface or present internally. Birth defects may be life threatening and require surgical correction, or they may interfere with function or appearance. It is estimated that about 3% of all children are born with major defects; minor defects or variations

Claudia Alarco Alarco December 5,2014 Disease in History Research Essay When we visited the Mutter Museum, I was mesmerized by the amount of fascinating artifacts, collection of specimens, models, as well as the extensive variety of medical instruments. The College of Physicians of Philadelphia is replete with some of the preeminent artifacts and sets of anatomical specimens in America. As a student, I was deeply intrigued by nearly everything. I was astounded by the amount of richness and diversity

P2 – Explain the potential effects of five different life factors on the development of an individual Genetics affect who you will grow to be in many ways. Deoxyribonucleic acid (DNA) is the language of life that is within every living thing, genetic instructions that form what we will become. There is still much of the language that scientists don’t understand, but after extensive research scientists have found that certain gene codes actually relate to increased chances of developing a cancer or

Spina Bifida is “a congenital defect of the spine in which part of the spinal cord and its meninges are exposed through a gap in the backbone. It often causes paralysis of the lower limbs, and sometimes mental handicap” [5]. According to recent studies, neural tube defects (NTDs) rank as one of the most common birth defects next to congenital heart disease. As many researchers attempt to determine the leading cause of spina bifida, Yunping Lei, Huiping Zhu, Wei Yang, M. Elizabeth Ross, Gary M. Shaw

assurances, the risk for fetal defects due to chromosomal aberration remains, physically (tallness, low fertility, infertility, and breast enlargement), mentally (potential manic-depressive problems), and behaviorally (tendency towards behavioral disorders). Purdy (1995) argued that every child should be provided with at least a minimally satisfying life, and genetic defect and its physical, mental and behavioral consequences cannot provide that level of satisfying life. Otherwise, the child will be