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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] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysmelia
Dysmelia (from the Greek (), "bad" + (), "limb" + English suffix -ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development.(2006) Dysmelia (Limb Deficiency/Reduction). pp 312-322. In: Atlas of Genetic Diagnosis and Counseling. Humana Press. Types Dysmelia can refer to * missing (aplasia) limbs: amelia, oligodactyly, congenital amputation e.g. tibial or radial aplasia * malformation of limbs: shortening (micromelia, rhizomelia or mesomelia), ectrodactyly, phocomelia, meromelia, syndactyly, brachydactyly, club foot * too many limbs: polymelia, polydactyly, polysyndactyly * others: tetraamelia, hemimelia, symbrachydactyly Occurrence rate Birth defects involving limbs occur in 1 per 1000. Causes Dysmelia can be caused by * Inheritance of abnormal genes, e.g. polydactyly, ectrodactyly or brachydactyly, symptoms of deformed limbs then often occur in combination with other symptoms (syndromes) * external causes during pregnancy (thus not ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Limb (anatomy)
A limb (from the Old English ''lim'', meaning "body part") or leg is a jointed, muscled appendage that tetrapod vertebrates use for weight-bearing and terrestrial locomotion such as walking, running and jumping, for paddle-swimming, or for grasping and climbing. The distalmost portion of a limb is known as its extremity. The limbs' bony endoskeleton, known as the appendicular skeleton, is homologous among all tetrapods. All tetrapods have four limbs that are organized into two bilaterally symmetrical pairs, with one pair at each end of the torso. The cranial pair are known as the forelimbs or ''front legs'', and the caudal pair the hindlimbs or ''back legs''. In animals with more upright posture (mainly hominid primates, particularly humans), the forelimbs and hindlimbs are often called upper and lower limbs, respectively. The fore-/upper limbs are connected to the thoracic cage via the shoulder girdles, and the hind-/lower limbs are connected to the pelvis via the hip ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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] |
Greek Language
Greek ( el, label=Modern Greek, Ελληνικά, Elliniká, ; grc, Ἑλληνική, Hellēnikḗ) is an independent branch of the Indo-European family of languages, native to Greece, Cyprus, southern Italy (Calabria and Salento), southern Albania, and other regions of the Balkans, the Black Sea coast, Asia Minor, and the Eastern Mediterranean. It has the longest documented history of any Indo-European language, spanning at least 3,400 years of written records. Its writing system is the Greek alphabet, which has been used for approximately 2,800 years; previously, Greek was recorded in writing systems such as Linear B and the Cypriot syllabary. The alphabet arose from the Phoenician script and was in turn the basis of the Latin, Cyrillic, Armenian, Coptic, Gothic, and many other writing systems. The Greek language holds a very important place in the history of the Western world. Beginning with the epics of Homer, ancient Greek literature includes many works of lasting impo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
WNT3
Proto-oncogene protein Wnt-3 is a protein that in humans is encoded by the ''WNT3'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba .... The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein showing 98% amino acid identity to mouse Wnt3 protein, and 84% to human WNT3A protein, another WNT gene product. The mouse studies show the requirement of Wnt3 in primary axis formation in the mouse. Studies of the gene expression suggest that this gene may play a key role in some cases of human breast, rectal, lung, and g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tetra-amelia
Tetra-amelia syndrome (''tetra-'' + '' amelia''), also called autosomal recessive tetraamelia, is an extremely rare autosomal recessive congenital disorder characterized by the absence of all four limbs. Other areas of the body are also affected by malformations, such as the face, skull, reproductive organs, anus, lungs and pelvis. The disorder can be caused by recessive mutations in the WNT3 or RSPO2 genes. Presentation Tetra-amelia syndrome is characterized by the complete absence of all four limbs. The syndrome causes severe malformations of various parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. In many cases, the lungs are underdeveloped, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth. Cause RSPO2 and WNT3 genes Researchers have found loss-of-function mutations in the WNT3 or the RSPO2 genes in people ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Teratology
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, 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 (word stem ), meaning "sign sent by the gods, portent, marvel, monster", and ('' -ology''), used to designate a discourse, treaty, science, theory ... [...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 Constriction
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysmelia
Dysmelia (from the Greek (), "bad" + (), "limb" + English suffix -ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development.(2006) Dysmelia (Limb Deficiency/Reduction). pp 312-322. In: Atlas of Genetic Diagnosis and Counseling. Humana Press. Types Dysmelia can refer to * missing (aplasia) limbs: amelia, oligodactyly, congenital amputation e.g. tibial or radial aplasia * malformation of limbs: shortening (micromelia, rhizomelia or mesomelia), ectrodactyly, phocomelia, meromelia, syndactyly, brachydactyly, club foot * too many limbs: polymelia, polydactyly, polysyndactyly * others: tetraamelia, hemimelia, symbrachydactyly Occurrence rate Birth defects involving limbs occur in 1 per 1000. Causes Dysmelia can be caused by * Inheritance of abnormal genes, e.g. polydactyly, ectrodactyly or brachydactyly, symptoms of deformed limbs then often occur in combination with other symptoms (syndromes) * external causes during pregnancy (thus not ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hemimelia
Hemimelia comprises the following: * Fibular hemimelia, Congenital longitudinal deficiency of the fibula or fibular longitudinal meromelia * Tibial hemimelia, Congenital longitudinal deficiency of the tibia, Congenital aplasia and dysplasia of the tibia with intact fibula, Congenital longitudinal deficiency of the tibia or tibial longitudinal meromelia * Radial Hemimelia, Congenital longitudinal deficiency of the radius, radial clubhand, radial longitudinal meromelia or radial ray agenesis * Ulnar hemimelia The ulna (''pl''. ulnae or ulnas) is a long bone found in the forearm that stretches from the elbow to the smallest finger, and when in anatomical position, is found on the medial side of the forearm. That is, the ulna is on the same side of the ..., Congenital longitudinal deficiency of the ulna, ulnar clubhand or ulnar longitudinal meromelia References External links {{Phakomatoses and other congenital malformations not elsewhere classified Congenital disorders of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
