Birth Defects

845 Words2 Pages
bulb-icon

Recommended: Fetal alcohol syndrome adults

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 are estimated to occur in 10% to 15% of births.
Malformations may be single or multiple. Multiple malformations that occur in a regular recognizable pattern are referred to as syndromes--for example, the FETAL ALCOHOL SYNDROME sometimes observed in infants of mothers who drank heavily when pregnant. Birth defects may result from the action of genes, chromosomes, or the environment on the developing fetus, but often the cause cannot be determined. Inherited Defects
Abnormal genes cause a significant number of different birth defects. Some can be identified as a single-gene disorder that is inherited in a simple
Mendelian mode, that is, either a dominant or a recessive pattern. For example, lobster claw deformity of the hands and feet (split hands or feet) is inherited and results from the effect of a single dominant gene. A person who has this deformity runs a 50% risk (1 in 2) of bearing offspring who will inherit the gene and will therefore also be affected. Autosomal rece...

Show More
Related

  • Genetic Disorders in Twins

    2026 Words  | 5 Pages

    Twin studies have been used to distinguish between genetic and environmental factors for many disorders in the general population including ectodermal dysplasia, Ellis-van Creveld, and anencephaly. This review focuses on genetic disorders affecting monozygotic, dizygotic, and conjoined twins to gain a better understanding of them. Many studies focus on twins because they have a nearly identical genome, which eliminates environmental factors. In case studies, the concordance rates in monozygotic twins have supported that certain disorders were caused by genetics and not the environment. The discordant values in twins will also be evaluated briefly. Twinning studies have also shown linkages between specific disorders and the genes responsible for them. Knowing the location of these genes allows patients to be treated quickly and efficiently. This paper will discuss the possible causes of twinning and the various methods of identifying abnormalities in twins. These methods also allow preventive measures against the rise of birth defects during prenatal development. Epigenetics in twins is also viewed through the perspective of effects on them. Treatments for genetic disorders in twins are reviewed, ranging from the restoration of malformed teeth to the separation of conjoined twins. Support groups for twins in treatment, and their families are also briefly reviewed.

    Read More

  • Cultural Competence and Informed Consent in Health Care: Confronting a Fetal Abnormality

    1708 Words  | 4 Pages

    Peterson-Iyer, Karen. "Confronting a Fetal Abnormality." http://www.scu.edu. Santa Clara University, Jan. 2008. Web. 13 Mar. 2014. .

    Read More

  • Genetic Conditions: Turner's Syndrome

    807 Words  | 2 Pages

    Turner’s syndrome is a genetic conditions that affects the female’s sex chromosome. In (http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001417/) Turner’s syndrome occurs when cells are missing all or part of an X chromosome. It’s common of the female patient to only have one X chromosome. Although, some individuals may have two X chromosomes but one is defective. It is thought that an estimated 1 out of 2000-2500 females suffer from this genetic condition worldwide but it’s usually females with this condition don’t survive their birth. Due to this abnormality, the genes that is defective “affect the growth and sexual development of the female” (http://learn.genetics.utah.edu/content/disorders/whataregd/turner/). However other disabilities and delays do occur even though these traits can vary case by case.

    Read More

  • FAS Case Study

    958 Words  | 2 Pages

    The fetus in utero may show signs of slow growth and organs may not develop correctly. After birth there can be physical defects evidenced by a smooth skin surface between upper lip and nose, the nose may be upturned, wide set eyes and an extremely thin upper lip. The head may be small in circumference and brain size, deformities of the joints, vision and hearing problems, heart defects and problems with bones and kidneys. There may be problems with the central nervous system and brain, including poor memory and judgement, learning disorders, delayed development, poor coordination and/or balance and hyperactivity or jitteriness, and mood swings. Children born with FAS may have difficulty is school, have poor social skills, have trouble adapting to change, lack impulse control, unable to stay on task and find it hard to plan or work towards a goal. The severity and negative effects range from subtle to serious, they are always

    Read More

  • Marfan Syndrome

    1537 Words  | 4 Pages

    A disease that results from a change to an individual's DNA is classified as a genetic disorder. The change can be very small such as a single mutation in a particular gene or complex like the addition or removal of a complete chromosome. An instance of a genetic disorder that affects a particular gene is Marfan syndrome. Marfan syndrome is an inherited disorder which alters the connective tissue in the body (Frey R, Sims J, 2010). Individuals with this disorder are affected in multiple areas because connective tissue is present all through the body. It is common for affected individuals to show irregularities in their eyes, circulatory system, skin, lungs, and musculoskeletal system (Frey R, Lutwick L, 2009).

    Read More

  • Effects of Poland Syndrome on Middle School Girls

    1486 Words  | 3 Pages

    About one out of every 10,000 to 100,000 births, a child is born with the birth defect: Poland Syndrome or Poland Anomaly. The birth defect can be apparent from either birth or adolescence depending on ...

    Read More

  • Shanken Baby Syndrome

    2043 Words  | 5 Pages

    Miles, K. (2013, May). Abusive head trauma (shaken baby syndrome). Retrieved May 15, 2013, from Baby Center: http://www.babycenter.com/0_abusive-head-trauma-shaken-baby-syndrome_1501729.bc

    Read More

  • Psychological Disorders

    1870 Words  | 4 Pages

    There are multiple criteria that come into play when determining a psychological disorder. One reason is because, it is hard to know for sure if an action is abnormal or not. Something could be abnormal in our country, but a custom in another.

    Read More

  • Psychological Disorders

    759 Words  | 2 Pages

    In a country based around free will, the United States contains a vast variety of personalities and behaviors. Plenty of people, probably more than we know, exert abnormal behavior. Abnormal behavior is patterns of emotion, thought, and action that are considered pathological. Historically, people blame witchcraft for this eccentric type of behavior and tended to perform exorcisms in hopes of abolishing such actions. Anxiety disorders and personality disorders, two forms of abnormal behavior, can alter a person’s personality as a result of life experiences.

    Read More

  • Persuasive Essay On Abortion

    1158 Words  | 3 Pages

    One in every thirty-three babies is born with a handicap (“Data & Statistics”). The test for birth defects can be done during pregnancy or after the infant is born (“Data and Statistics”). In 2004-2005, the CDC counted 21 diseases as major birth defects (“Data and Statistics”). The list includes: “Central nervous system defects, Eye defects, Cardiovascular defects, Orofacial defects, Gastrointestinal defects, Musculoskeletal defects, and Chromosomal anomalies” (“Data and Statistics”). 20% of infant deaths are caused by birth defects making it the leading cause of all infant deaths (“Data & Statistics”). These defects can happen as a result of a failed abortion or during a pregnancy after an

    Read More

  • Children And Alcohol Abuse Essay

    1752 Words  | 4 Pages

    Children can be effected by their caregiver’s alcohol and substance abuse in numerous ways. Fetal Alcohol Syndrome is a pattern of birth defects caused by maternal consumption of alcohol during pregnancy. Children born with Fetal Alcohol Syndrome tend to have physical abnormalities such as deformed facial characteristics. They are generally born with a variety of emotional and/or intellectual limitations. It is very common for these children to...

    Read More

  • Huntingtons Disease

    704 Words  | 2 Pages

    Since the gene for HD is dominant, there is a 50% chance of a sufferer's

    Read More

  • Fetal Alcohol Syndrome

    2071 Words  | 5 Pages

    When a woman is pregnant it is recommended that she does not consume any alcohol. If a woman does consume alcohol during the pregnancy she can cause a disorder called Fetal Alcohol Syndrome (Rank, J.). In 1968, Fetal Alcohol Syndrome was characterized by P. Lamoine and colleagues form Nantes. They reported their findings in the French pediatric journal but unfortunately it didn’t draw to much attention. Five years later, in 1973, it was characterized again by K.L. Jones and colleagues in Seattle. Unlike the report in 1968 that wasn’t a success, this report in the British medical journal, The Lancet, triggered a great amount of reporters of Fetal Alcohol Syndrome (Perlstein, David, MD, FAAP). The disorder is characterized by brain problems, abnormal facial features, growth defects, and organ defects (Rank, J.) Alcohol is considered a teratogen and is the most common cause of mental retardation. “According to research published in Pediatrics, alcohol use among women of childbearing age (18-44 years) constitutes a leading, preventable cause of birth defects and development disabilities in U.S.” (Perlstein, David, MD, FAAP). Even though the disorder is preventable, the defects are not irreversible or unchangeable (Mayo Clinic Staff).

    Read More

  • Genetic Disorders

    830 Words  | 2 Pages

    Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes.

    Read More

  • Physical Development During The Prenatal Stages

    1806 Words  | 4 Pages

    During prenatal development, the mother's general health and age is very important. Nutrition, anxiety, and stress are a big part of the physical development during the prenatal stages. Referenced by Eysenck & Schoenthaler (1997) in our text, “A rapidly growing body of evidence reveals that when food sources are short on protein or essential vitamins and minerals during prenatal and early postnatal development, an infant’s physical, socio-emotional, and intellectual development can be compromised” (as cited by Broderick & Blewitt, 2010, p. 56).Genetic and chromosomal problems can begin at conception. Many disorders can be transmitted through the operation of dominant and recessive genes. Most recessive disorders are diagnosed in early childhood. Some genetic disorders include the following: sickle cell disease, hemophilia, night blindness, cystic fibrosis, extra fingers, high blood pressure, and huntington's disease. Chromosomal errors also effect the prenatal development stage. The most common is Down syndrome, in which a child has 3 copies of chromosome 21. The risk of bearing a child with this condition depends on the age of the mother.

    Read More

More about Birth Defects

Open Document