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Encyclopedia > Edward's syndrome
Edwards syndrome
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ICD-10 Q91
ICD-O: {{{ICDO}}}
ICD-9 758.2
OMIM {{{OMIM}}}
MedlinePlus {{{MedlinePlus}}}
eMedicine {{{eMedicineSubj}}}/{{{eMedicineTopic}}}
DiseasesDB {{{DiseasesDB}}}

Trisomy 18 or Edwards Syndrome (named after John H. Edwards) is a genetic disorder. It is the second most common trisomy after Down's Syndrome. It is caused by the presence of three - instead of two - chromosomes 18 in a fetus or baby's cells. The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ... The International Classification of Diseases for Oncology (ICD-O) is a domain specific extension of the International Statistical Classification of Diseases and Related Health Problems for tumor diseases. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... MedlinePlus (medlineplus. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... A genetic disorder, or genetic disease is a disease caused by abnormal expression of one or more genes in a person causing a clinical phenotype. ... A trisomy means the presence of three (instead of the normal two) chromosomes of a particular numbered type in an organism. ...


The additional chromosome usually occurs before conception, when egg and sperm cells are made. A healthy egg or sperm cell contains 23 individual chromosomes - one to contribute to each of the 23 pairs of chromosomes needed to form a normal cell with 46 chromosomes. Numerical errors arise at either of the two meiotic divisions and cause the failure of segregation of a chromosome into the daughter cells (non-disjunction). This results in an extra chromosome making the haploid number 24 rather than 23. Fertilization of these eggs or sperm that contain an extra chromosome results in trisomy, or three copies of a chromosome rather than two. It is this extra genetic information that causes all the abnormalities characteristic of individuals with Edwards Syndrome. As each and every cell in their body contains extra information, the ability to grow and develop appropriately is delayed or impaired. This results in characteristic physical abnormalities such as low birth weight; a small, abnormally shaped head; small jaw; small mouth; low-set ears; and clenched fists with overlapping fingers. Babies with Edwards syndrome also have heart defects, and other organ malformations such that most systems of the body are affected. A spermatozoon fertilising an ovum Fertilisation (also known as conception, fecundation and syngamy) is fusion of gametes to form a new organism. ... Over may refer to: Look up Over on Wiktionary, the free dictionary Over (cricket) Over (professional wrestling) or a place in England: Over, Cambridgeshire Over, Cheshire Over, South Gloucestershire This is a disambiguation page, a list of pages that otherwise might share the same title. ... The signifier sperm can refer to: (mass noun, from Greek sperma = seed) a substance which consists of spermatozoa and which is a component of semen (mass noun) semen itself (informally, count noun with plural sperm or sperms) a single spermatozoon (= sperm cell) sperma ceti (Latin ceti, genitive of cetus = whale... Low birth weight is defined by the World Health Organization (WHO) as a fetus who is delivered to a reproductive female at the end of a pregnancy at a weight of < 2500 grams (WHO, 1969). ... A congenital heart defect is a defect in the structure of the heart and great blood vessels of the newborn. ...


Edwards Syndrome also results in significant developmental delays. For this reason a full-term Edwards syndrome baby may well exhibit the breathing and feeding difficulties of a premature baby. Given the assistance offered to premature babies, some of these infants are able to overcome these initial difficulties, but eventually succumb. Premature birth (also known as preterm birth) is defined medically as birth occurring earlier than 37 completed weeks of gestation. ...


The survival rate for Edwards Syndrome is very low. About half die in utero. Of liveborn infants, only 50% live to 2 months, and only 5 - 10% will survive their first year of life. Major causes of death include apnea and heart abnormalities. It is impossible to predict the exact prognosis of an Edwards Syndrome child during pregnancy or the neonatal period. As major medical interventions are routinely withheld from these children, it is also difficult to determine what the survival rate or prognosis would be for the condition if they were treated with the same aggressiveness as their genetically normal peers. They are typically severely to profoundly developmentally delayed. Apnea (British spelling - apnoea) (Greek απνοια, from α-, privative, πνεειν, to breathe) is a technical term for suspension of external breathing. ... Prognosis (older Greek πρόγνωσις, modern Greek πρόγνωση - literally fore-knowing, foreseeing) is a medical term denoting the doctors prediction of how a patients disease will progress, and whether there is chance of recovery. ... Pregnancy Pregnancy is the carrying of one or more embryos or fetuses by female mammals, including humans, inside their bodies. ... A human infant The word Infant derives from the Latin in-fans, meaning unable to speak. ...


The rate of occurrence for Edwards Syndrome is ~ 1:3000 conceptions and 1:6000 livebirths, as 50% of those diagnosed prenatally with the condition will not survive the prenatal period. Although there is an increased risk of conceiving a child with Edwards Syndrome as a woman's age increases, women in their 20's and 30's still conceive Edwards Syndrome babies.


A small percentage of cases occur when only some of the body's cells have an extra copy of chromosome 18, resulting in a mixed population of cells with a differing number of chromosomes. Such cases are sometimes called mosaic Edwards syndrome. Very rarely, a piece of chromosome 18 becomes attached to another chromosome (translocated) before or after conception. Affected people have two copies of chromosome 18, plus extra material from chromosome 18 attached to another chromosome. With a translocation, the person has a partial trisomy for chromosome 18 and the abnormalities are often less than for the typical Edwards syndrome. Mosaicism In medicine (genetics), a mosaic or mosaicism denotes the presence of two populations of cells with different genotypes in one patient, where usually one of the two is affected by a genetic disorder. ... Chromosomal translocation of the 4th and 20th chromosome. ...


Features and Characteristics

Symptoms and findings may be extremely variable from case to case. However, in many affected infants, the following may be found: • Growth deficiency


• Feeding difficulties


• Breathing difficulties


• Developmental delays


• Mental Retardation


• Undescended testicles in males


• Prominent back portion of the head


• Small head (microcephaly)


• Low-set, malformed ears


• Abnormally small jaw (micrognathia)


• Small mouth


• Cleft lip/palate


• Upturned nose


• Narrow eyelid folds (palpebral fissures)


• Widely-spaced eyes (ocular hypertelorism)


• Dropping of the upper eyelids (ptosis)


• Overlapped, flexed fingers


• Underdeveloped or absent thumbs


• Underdeveloped nails


• Webbing of the second and third toes


• Clubfeet


• Small pelvis with limited movements of the hips


• Short breastbone


• Kidney malformations


• Structural heart defects at birth (i.e., ventricular septal defect, atrial septal defect, patent ductus arteriosus)


External link

  • For more information, stories, support and hope, visit the Trisomy 18 Support Foundation
  • Edward's Syndrome

  Results from FactBites:
 
Edwards Syndrome - WrongDiagnosis.com (484 words)
Edwards syndrome causes mental retardation and numerous physical defects that often cause an early infant death.
A syndrome characterized by the presence of an extra (third) chromosome on an otherwise diploid chromosome 18 associated with a broad spectrum of variable abnormalities consisting of more than 130 individual defects of the craniofacial structures, brain, heart, kidneys, and gut.
Edwards Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
  More results at FactBites »

 
 

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