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Dysmelia
Dysmelia (from the Greek (), "bad" + (), "limb" + English suffix -ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development. Types Dysmelia can refer to * missing ( aplasia) limbs: amelia (including tetraamelia), oligodactyly, congenital amputation e.g. tibial or radial aplasia * malformation of limbs: shortening (micromelia, rhizomelia or mesomelia), ectrodactyly, phocomelia, meromelia, syndactyly, brachydactyly, club foot * extra limbs: polymelia, polydactyly, polysyndactyly * others: hemimelia, symbrachydactyly Occurrence rate Birth defects involving limbs occur in 0.69 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 inherited), e.g. via amniotic band syndrome * teratogenic drugs (e.g. thalidomide, which cause ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorder
A birth defect is an abnormal condition that is present at childbirth, birth, regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellectual disability, intellectual, or developmental disability, 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 disorder, metabolic and degenerative disease, degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic disorder, genetic or chromosome abnormality, chromosomal disorders, exposure to certain medications or chemicals, or certain vertically transmitted infection, infections during pregnancy. Risk factors include folate deficiency, alcohol drink, d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Malformation
A birth defect 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 birth defects are believed to involve multiple factors. Birth defects may be visible at birth or diag ... [...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 Aberdeen Angus, 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 Ca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amelia (birth Defect)
Amelia is the birth defect of lacking one or more limbs. 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. The term is . Symptoms The diagnosis of 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 in other organ systems. These frequently include cleft lip and/or palate, body wall defects, malformed head, and defects of the neural tube, kidneys, and diaphragm. Facial clefts may be accompanied by other faci ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polysyndactyly
Polysyndactyly is a congenital anomaly, combining polydactyly and syndactyly, in which affected individuals have an extra finger or toe that is connected, via fusing or webbing, to an adjacent digit. __TOC__ Signs and symptoms Presentations of polysyndactyly vary in location and size of the duplicated digit, and in the extent of webbing between digits. The extra digit is most commonly postaxial, on the same side as the pinky or little toe. Preaxial polysyndactyly, in which the duplicated digit is on the side of the thumb or big toe, is less common. Crossed polysyndactyly, in which polysyndactyly is present on the hand and foot, and is preaxial on one and postaxial on the other, is extremely rare and often occurs with other genetic disorders. Polysyndactyly may be classified by the level of duplication. The extra digit may be small and comprise only soft tissue, but usually includes at least one bone, most commonly the distal and middle phalanges. Partial or complete dupli ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brachydactyly
Brachydactyly () is a medical term denoting the presence of abnormally short digits (fingers or toes) at birth. The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, dominant trait. It most often occurs as an isolated dysmelia, but can also occur with other anomalies as part of many congenital syndromes. Brachydactyly may also be a signal that one is at risk for congenital heart disease due to the association between congenital heart disease and Carpenter syndrome and the link between Carpenter syndrome and brachydactyly. Nomograms for normal values of finger length as a ratio to other body measurements have been published. In clinical genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinians, Augustinian ..., the most com ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Club Foot
Clubfoot is a congenital or acquired defect where one or both feet are supinated, rotated inward and plantar flexion, downward. Congenital clubfoot is the most common congenital malformation of the foot with an incidence of 1 per 1000 births. In approximately 50% of cases, clubfoot affects both feet, but it can present unilaterally causing one leg or foot to be shorter than the other. Most of the time, it is not associated with other problems. Without appropriate treatment, the foot deformity will persist and lead to pain and impaired ability to walk, which can have a dramatic impact on the quality of life. The exact cause is usually not identified. Both genetic and environmental factors are believed to be involved. There are two main types of congenital clubfoot: Idiopathic disease, idiopathic (80% of cases) and secondary clubfoot (20% of cases). The idiopathic congenital clubfoot is a multifactorial condition that includes environmental, vascular, positional, and genetic fac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polydactyly
Polydactyly is a birth defect that results in extra fingers or toes. The hands are more commonly involved than the feet. Extra fingers may be painful, affect self-esteem, or result in clumsiness. It is associated with at least 39 genetic mutations. It may either present alone or with other defects. Cases may run in families. The underlying mechanism involves an error in limb bud formation during early development. Diagnosis may occur before birth via prenatal ultrasound as early as nine weeks. X-rays may be useful after a child is a year old. The opposite is oligodactyly (fewer fingers or toes). Treatment varies from removal by cautery to more involved surgery. While putting a tight band around the base has been carried out, this is not typically recommended. If surgery is required, this is often done around two years of age. Occasionally multiple surgeries are required. Polydactyly is present in about 4 to 12 per 10,000 newborns. It is the most common defect of the ha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Symbrachydactyly
Symbrachydactyly is a congenital abnormality, characterized by limb anomalies consisting of brachydactyly, cutaneous syndactyly and global hypoplasia of the hand or foot. In many cases, bones will be missing from the fingers and some fingers or toes may be missing altogether. The ends of the hand may have "nubbins"—small stumps of soft tissue where the finger would have developed, which may have tiny residual nails. No clear statistics are available regarding the incidence rate for symbrachydactyly. This may be due, in part, to the wide variety of definitions and classifications that are used in diagnosis. In most cases, children born with symbrachydactyly are able to adapt to their physical limitations and experience a fully functional life with no treatment. Most children with this condition can use their hands well enough to do all the usual things children do. Possible treatment includes surgery Surgery is a medical specialty that uses manual and instrumental techniq ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hemimelia
Hemimelia is a birth defect consisting in unilateral or bilateral underdevelopment of the distal part of the lower or upper limb. The affected bone may be shortened or not develop at all. Types of hemimelia Transverse hemimelia is a congenital absence of part or all of a limb (including hand or foot) and is called Amelia (birth defect), amelia when the entire limb is missing. Paraxial hemimelia means partial absence of one of the elements of the limb in the longitudinal axis (in phocomelia there is no complete absence of a part of the limb). Sub types of hemimelia are 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 dysplasia, Radial hemimelia, Congenital longitudinal deficiency of the ra ... [...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 Morning sickness, also called nausea and vomiting of pregnancy (NVP), is a symptom of pregnancy. Despite the name, nausea or vomiting can occur at any time during the day. Typically the symptoms occur between the 4th and 16th weeks of pregnan ... (NVP). Diagnosis Meromelia is a birth defect characterized by lacking part of at least one free limb. Epidemiology Approximately 0.000014% of live births result in meromelia. Etymology The word ''meromelia'' comes from the Greek 'part, partial' + 'limb'. See also * Amelia (birth defect) * Phocomelia * Polymelia * Amniotic band syndrome Refere ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
