Much of the language used for describing congenital conditions antedates genome mapping, and structural conditions are often considered separately from other congenital conditions. Many metabolic conditions are now known to have subtle structural expression, and structural conditions often have genetic links. Still, congenital conditions are often classified on a structural basis, organized when possible by primary organ system affected. Primarily structural Several terms are used to describe congenital abnormalities. (Some of these are also used to describe noncongenital conditions, and more than one term may apply in an individual condition.) Terminology * A congenital physical anomaly is an abnormality of the structure of a body part. It may or may not be perceived as a problem condition. Many, if not most, people have one or more minor physical anomalies if examined carefully. Examples of minor anomalies can include curvature of the fifth finger (clinodactyly), a third nipple, tiny indentations of the skin near the ears (preauricular pits), shortness of the fourth metacarpal or metatarsal bones, or dimples over the lower spine (sacral dimples). Some minor anomalies may be clues to more significant internal abnormalities. * Birth defect is a widely used term for a congenital malformation, i.e. a congenital, physical anomaly that is recognizable at birth, and which is significant enough to be considered a problem. According to the Centers for Disease Control and Prevention (CDC), most birth defects are believed to be caused by a complex mix of factors including genetics, environment, and behaviors, though many birth defects have no known cause. An example of a birth defect is cleft palate, which occurs during the fourth through seventh weeks of gestation. Body tissue and special cells from each side of the head grow toward the center of the face. They join together to make the face. A cleft means a split or separation; the "roof" of the mouth is called the palate. * A congenital malformation is a physical anomaly that is deleterious, i.e. a structural defect perceived as a problem. A typical combination of malformations affecting more than one body part is referred to as a malformation syndrome. * Some conditions are due to abnormal tissue development: * A malformation is associated with a disorder of tissue development. Malformations often occur in the first trimester. * A dysplasia is a disorder at the organ level that is due to problems with tissue development. * Conditions also can arise after tissue is formed: * A deformation is a condition arising from mechanical stress to normal tissue. Deformations often occur in the second or third trimester, and can be due to oligohydramnios. * A disruption involves breakdown of normal tissues. * When multiple effects occur in a specified order, they are known as a sequence. When the order is not known, it is a syndrome. Examples of primarily structural congenital disorders A limb anomaly is called a dysmelia. These include all forms of limbs anomalies, such as amelia, ectrodactyly, phocomelia, polymelia, polydactyly, syndactyly, polysyndactyly, oligodactyly, brachydactyly, achondroplasia, congenital aplasia or hypoplasia, amniotic band syndrome, and cleidocranial dysostosis. Congenital heart defects include patent ductus arteriosus, atrial septal defect, ventricular septal defect, and tetralogy of Fallot. Congenital anomalies of the nervous system include neural tube defects such as spina bifida, encephalocele, and anencephaly. Other congenital anomalies of the nervous system include the Arnold–Chiari malformation, the Dandy–Walker malformation, hydrocephalus, microencephaly, megalencephaly, lissencephaly, polymicrogyria, holoprosencephaly, and agenesis of the corpus callosum. Congenital anomalies of the gastrointestinal system include numerous forms of stenosis and atresia, and perforation, such as gastroschisis. Congenital anomalies of the kidney and urinary tract include renal parenchyma, kidneys, and urinary collecting system. Defects can be bilateral or unilateral, and different defects often coexist in an individual child. Primarily metabolic A congenital metabolic disease is also referred to as an inborn error of metabolism. Most of these are single-gene defects, usually heritable. Many affect the structure of body parts, but some simply affect the function. Other Other well-defined genetic conditions may affect the production of hormones, receptors, structural proteins, and ion channels.
medical cause of Paraplegia
medical cause of Hemiparesis
symptom of Cerebral palsy
symptom of Amyotrophic lateral sclerosis
medical cause of Dystonia
medical cause of Parkinsonism
picture of Acrocallosal syndrome
medical cause of Polyneuropathy