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Meromelia
Meromelia is a birth defect characterized by the lacking of a part, but not all, of one or more limbs with the presence of a hand or foot. It results in a shrunken and deformed extremity. Cause Such defects are mainly the results of genetic disorders, but some teratogenic (or environmental) factors have been identified, such as the use of thalidomide from 1957 to 1962 for morning sickness (NVP). Diagnosis Meromelia a birth defect characterization by the lacking of a part, but all, of one or more limbs with the presence of a hand or foot. Treatment Artificial limbs, surgery, rehabilitation, LASIK Etymology Gk, meros ("part") + melia ("limb") See also * Amelia (birth defect) * Phocomelia * Polymelia * Thalidomide * Amniotic Band Syndrome References Congenital disorders Musculoskeletal disorders Congenital amputations {{congenital-malformation-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amelia (birth Defect)
Amelia is the birth defect of lacking one or more limbs. It can also result in a shrunken or deformed limb. The term may be modified to indicate the number of legs or arms missing at birth, such as tetra-amelia for the absence of all four limbs. A related term is meromelia, which is the partial absence of a limb or limbs. The term is from Greek ἀ- "lack of" plus μέλος (plural: μέλεα or μέλη) "limb" Symptoms The diagnosis of tetra-amelia syndrome is established clinically and can be made on routine prenatal ultrasonography. WNT3 is the only gene known to be associated with tetra-amelia syndrome. Molecular genetic testing on a clinical basis can be used to diagnose the incidence of the syndrome. The mutation detection frequency is unknown as only a limited number of families have been studied. Affected infants are often stillborn or die shortly after birth. Description Amelia may be present as an isolated defect, but it is often associated with major malformations ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Birth Defect
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be visi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorders
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene ( autosomal recessive inheritance) or from a parent with the disorder ( autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Teratogenic
Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in dysmorphology. The related term developmental toxicity includes all manifestations of abnormal development that are caused by environmental insult. These may include growth retardation, delayed mental development or other congenital disorders without any structural malformations. Teratogens are substances that may cause birth defects via a toxic effect on an embryo or fetus. Known teratogens include: retinol, thalidomide, Mercury (element), mercury, Alcohol (drug), alcohol, lead, polychlorinated biphenyls (PCBs), and 2,3,7,8-tetrachlorodibenzodioxin. Etymology The term was borrowed in 1842 from the French , where it was formed in 1830 from the Greek language, Greek (word stem ), meaning "sign sent by the gods, portent, marvel, monster", and (''-ology''), used ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thalidomide
Thalidomide, sold under the brand names Contergan and Thalomid among others, is a medication used to treat a number of cancers (including multiple myeloma), graft-versus-host disease, and a number of skin conditions including complications of leprosy. While it has been used in a number of HIV-associated conditions, such use is associated with increased levels of the virus. It is taken by mouth. Common side effects include sleepiness, rash, and dizziness. Severe side effects include tumor lysis syndrome, blood clots, and peripheral neuropathy. Use in pregnancy may harm the fetus, including resulting in malformation of the limbs. In males who are taking the medication, contraception is essential if a partner could become pregnant. It is an immunomodulatory medication and works by a number of mechanisms, including stimulating T cells and decreasing TNF-α production. Thalidomide was first marketed in 1957 in West Germany, where it was available over the counter. When first r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Morning Sickness
Morning sickness, also called nausea and vomiting of pregnancy (NVP), is a symptom of pregnancy that involves nausea or vomiting. Despite the name, nausea or vomiting can occur at any time during the day. Typically the symptoms occur between the 4th and 16th week of pregnancy. About 10% of women still have symptoms after the 20th week of pregnancy. A severe form of the condition is known as hyperemesis gravidarum and results in weight loss. The cause of morning sickness is unknown but may relate to changing levels of the hormone human chorionic gonadotropin. Some have proposed that morning sickness may be useful from an evolutionary point of view. Diagnosis should only occur after other possible causes have been ruled out. Abdominal pain, fever, or headaches are typically not present in morning sickness. Taking prenatal vitamins before pregnancy may decrease the risk. Specific treatment other than a bland diet may not be required for mild cases. If treatment is used the com ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phocomelia
Phocomelia is a condition that involves malformations of human arms and legs. Although many factors can cause phocomelia, the prominent roots come from the use of the drug thalidomide and from genetic inheritance. Occurrence in an individual results in various abnormalities to the face, limbs, ears, nose, vessels and many other underdevelopments. Although operations may improve some abnormalities, many are not surgically treatable due to the lack of nerves and other related structures. The term is from Ancient Greek φώκη ''phōkē'', "seal (animal)" + ''-o-'' interfix + μέλος ''melos'', "limb" + English suffix ''-ia''). Phocomelia is an extremely rare congenital disorder involving malformation of the limbs (dysmelia). Étienne Geoffroy Saint-Hilaire coined the term in 1836. Signs and symptoms The symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, various abnormalities can occur to the limbs and bones. Usually the upper limbs are n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polymelia
Polymelia is a birth defect in which an affected individual has more than the usual number of limbs. It is a type of dysmelia. In humans and most land-dwelling vertebrates, this means having five or more limbs. The extra limb is most commonly shrunken and/or deformed. The term is from Greek πολυ- "many", μέλεα "limbs". Sometimes an embryo started as conjoined twins, but one twin degenerated completely except for one or more limbs, which end up attached to the other twin. Sometimes small extra legs between the normal legs are caused by the body axis forking in the dipygus condition. Notomelia (from Greek for "back-limb-condition") is polymelia where the extra limb is rooted along or near the midline of the back. Notomelia has been reported in Angus cattle often enough to be of concern to farmers. Cephalomelia (from Greek for "head-limb-condition") is polymelia where the extra limb is rooted on the head. Origin Tetrapod legs evolved in the Devonian or Carboniferous geo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thalidomide
Thalidomide, sold under the brand names Contergan and Thalomid among others, is a medication used to treat a number of cancers (including multiple myeloma), graft-versus-host disease, and a number of skin conditions including complications of leprosy. While it has been used in a number of HIV-associated conditions, such use is associated with increased levels of the virus. It is taken by mouth. Common side effects include sleepiness, rash, and dizziness. Severe side effects include tumor lysis syndrome, blood clots, and peripheral neuropathy. Use in pregnancy may harm the fetus, including resulting in malformation of the limbs. In males who are taking the medication, contraception is essential if a partner could become pregnant. It is an immunomodulatory medication and works by a number of mechanisms, including stimulating T cells and decreasing TNF-α production. Thalidomide was first marketed in 1957 in West Germany, where it was available over the counter. When first r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amniotic Band Syndrome
Constriction ring syndrome (CRS) is a congenital disorder with unknown cause. Because of the unknown cause there are many different, and sometimes incorrect names. It is a malformation due to intrauterine bands or rings that give deep grooves in, most commonly, distal extremities like fingers and toes. In rare cases the constriction ring can form around other parts of the fetus and cause amputation or even intrauterine death. The anatomy proximal to the site of constriction (or amputation) is developmentally normal. CRS can be associated with other malformations with club foot being most common. The precise configuration of the bands, lymphedema, and character of the amputations are not predictable and vary with each individual patient. Also more than one extremity is usually affected, and it is rare for only one ring to present as an isolated malformation with no other manifestation of this syndrome. Signs and symptoms The constriction of appendages by amniotic bands may result in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorders
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be vi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Musculoskeletal Disorders
Musculoskeletal disorders (MSDs) are injuries or pain in the human musculoskeletal system, including the joints, ligaments, muscles, nerves, tendons, and structures that support limbs, neck and back. MSDs can arise from a sudden exertion (e.g., lifting a heavy object), or they can arise from making the same motions repeatedly repetitive strain, or from repeated exposure to force, vibration, or awkward posture. Injuries and pain in the musculoskeletal system caused by acute traumatic events like a car accident or fall are not considered musculoskeletal disorders. MSDs can affect many different parts of the body including upper and lower back, neck, shoulders and extremities (arms, legs, feet, and hands). Examples of MSDs include carpal tunnel syndrome, epicondylitis, tendinitis, back pain, tension neck syndrome, and hand-arm vibration syndrome. Causes MSDs can arise from the interaction of physical factors with ergonomic, psychological, social, and occupational factors. Biomechanic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
