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Encyclopedia > Edwards syndrome
Edwards' syndrome
Classification & external resources
ICD-10 Q91.0-Q91.3
ICD-9 758.2
DiseasesDB 13378
eMedicine ped/652 

Trisomy 18 or Edwards Syndrome (named after John H. Edwards, who first described the syndrome in 1960) is a genetic disorder. It is the most common autosomal trisomy after Down Syndrome that carries to term. Image File history File links Emblem-important. ... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... John Hilton Edwards (born March 26, 1928) is a British medical geneticist[1]. He is credited with the first description, in 1960, of the syndrome now known as Edwards syndrome or trisomy 18[2]. Notes ^ John Hilton Edwards (a short biography). ... A genetic disorder is a condition caused by abnormalities in genes or chromosomes. ... An autosome is a non-sex chromosome. ... A trisomy means the presence of three (instead of the normal two) chromosomes of a particular numbered type in an organism. ... Down syndrome or trisomy 21 (usually Downs Syndrome in British English[1]) is a genetic disorder caused by the presence of all or part of an extra 21st chromosome. ...


It is caused by the presence of three — instead of two — copies of chromosome 18 in a fetus or infant's cells. Chromosome 18 is one of the 23 pairs of chromosomes in humans. ...


The additional chromosome usually occurs before conception. A healthy egg or sperm cell contains 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. This article is about fertilisation in animals and plants. ...

Contents

Prognosis

The survival rate of 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. Because major medical interventions are routinely withheld from these children, it is difficult to determine what the survival rate or prognosis would be with aggressive medical treatment. Apnea, apnoea, or apnÅ“a (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. ... This article is about human pregnancy in biological females. ... A human infant The word Infant derives from the Latin in-fans, meaning unable to speak. ...


Incidence/prevalence

The rate of occurrence for Edwards Syndrome is ~ 1:3000 conceptions and 1:6000 live births, as 50% of those diagnosed prenatally with the condition will not survive the prenatal period. Although women in their 20s and 30s may conceive Edwards Syndrome babies, there is an increased risk of conceiving a child with Edwards Syndrome as a woman's age increases, with the average age for this disorder being 32½.[1]


Variations

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. 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:

Extremely Small Penis Size Arthrogryposis (IPA pronunciation: /ËŒar. ... Dysphagia (, not to be confused with dysphasia) is a medical term defined as difficulty swallowing. It derives from the Greek root dys meaning difficulty or disordered, and phagia meaning to eat. It is a sensation that suggests difficulty in the passage of solids or liquids from the mouth to the... Dyspnea (R06. ... Mental retardation is a term for a pattern of persistently slow learning of basic motor and language skills (milestones) during childhood, and a significantly below-normal global intellectual capacity as an adult. ... During male mammalian development, the testes normally descend from their original position in the abdomen to their final home, the scrotum. ... The word male has the following meanings: In biology, it refers to one half of a heterogamous reproduction system, where the female is the other half. ... For other uses, see Head (disambiguation). ... Micrognathia is a medical term for an unnaturally small jaw. ... Cleft lip is a congenital deformity caused by a failure in facial development during pregnancy. ... Cleft palate is a condition in which the two plates of the skull that form the hard palate (roof of the mouth) are not completely joined. ... Palpebral fissure is the anatomic name for the separation between the upper and lower eyelids. ... Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increases distance between the eyes (orbital hypertelorism), seen in a variety of syndromes, including DiGeorge syndrome and Loeys-Dietz syndrome. ... In ophthalmology, ptosis is an abnormally low position (drooping) of the upper eyelid which may grow more or less severe during the day. ... This article does not cite any references or sources. ... Absent radius is a very rare medical condition in which the radius bone is not developed. ... the feet of a gull showing webbed toes. ... Toes are the digits of the foot of a human or animal. ... Talipes equinovarus, otherwise known as clubfoot, is a congenital disorder where the foot is turned inward (inversion) and in plantar flexion. ... In anatomy, the hip is the bony projection of the femur which is known as the greater trochanter, and the overlying muscle and fat. ... A ventricular septal defect (or VSD) is a defect in the ventricular septum (the wall dividing the left and right ventricles of the heart). ... Atrial septal defects (ASD) are a group of congenital heart diseases that enables communication between atria of the heart and may involve the interatrial septum. ... Patent ductus arteriosus (PDA) is a congenital heart defect wherein a childs ductus arteriosus fails to close after birth. ... An omphalocele is a type of abdominal wall defect in which the intestines, liver, and occasionally other organs remain outside of the abdomen in a sac because of a defect in the development of the muscles of the abdominal wall. ...


References

  1. ^ Prevalence and Incidence of Edwards Syndrome. Diseases Center-Edwards Syndrome. Adviware Pty Ltd. (2008-02-04). Retrieved on 2008-02-17. “mean maternal age for this disorder is 32½”
  • Stenson, Carol M. (1999). Trisomy 18: A Guidebook for Families. University of Nebraska Medical Center. ISBN 1-889843-29-6.
  • Barnes, Ann M. (2000). Care of the infant and child with trisomy 18 or 13: medical problems, reported treatments and milestones. University of Nebraska Medical Center. ISBN 1-889843-58-X.

2008 (MMVIII) is the current year, a leap year that started on Tuesday of the Anno Domini (or common era), in accordance to the Gregorian calendar. ... is the 35th day of the year in the Gregorian calendar. ... 2008 (MMVIII) is the current year, a leap year that started on Tuesday of the Anno Domini (or common era), in accordance to the Gregorian calendar. ... is the 48th day of the year in the Gregorian calendar. ...

External links

Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder. ... XXXX syndrome (also called tetrasomy X, quadruple X, or 48, XXXX) is a rare chromosomal disorder caused by the presence of four X chromosomes instead of two X chromosomes, which are normally found in females. ... XXXXX syndrome (also called pentasomy X) is the presence of three additional X chromosomes. ... Chromosomal translocation of the 4th and 20th chromosome. ... Philadelphia chromosome or Philadelphia translocation is a specific genetic, chromosomal abnormality that is associated with chronic myelogenous leukemia (CML) and involves an exchange of material between chromosomes 9 and 22. ... Burkitts lymphoma (or Burkitts tumor, or Malignant lymphoma, Burkitts type) is a cancer of the lymphatic system (in particular, B lymphocytes). ... Fragile X syndrome is a syndrome of X-linked mental retardation. ... Gonadal dysgenesis generally refers to a condition where gonadal development is abnormal, often only presenting streaks of connective tissue. ... Mixed gonadal dysgenesis refers to a condition of abnormal and asymmetrical gonadal development leading to a disturbed sex differentiation. ...

  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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