Edward's+Syndrome+(Trisomy+18)

JPP & AH Edward's Syndrome (Trisomy 18)

** There are three distict forms of Edward's Disease which are classified by their severity. ** ** a. ****__ Full Trisomy 18: __** i.most common ii.95% of all cases iii.the extra chromosome occurs in every cell in the baby's body iv.not hereditary // 1. //// not due to anything the parents did or did not do either before or during pregnancy. // ** b. ****__ Partial Trisomy 18: __** i.very rare ii.only part of an extra chromosome is present iii.may be caused by hereditary factors iv.Very rarely, a piece of chromosome 18 becomes attached to another chromosome before or after conception v.Affected people have two copies of chromosome 18, plus a "partial" piece of extra material from chromosome 18. ** c. ****__ Mosaic Trisomy 18: __** i.very rare ii.extra chromosome is present in some (but not all) of the cells of the body iii.not inherited iv.random occurrence that takes place during cell division ** 2. **** Symptoms ** There are many, many symptoms of Edward's Diease. The most commom, which is used for diagnosis, is deformations of the brain and scull. ** a. ****__ Nervous system and brain __** i.mental retardation ii.delayed development (100% of individuals) iii.high muscle tone iv.seizures v.physical malformations ** b. ****__ Head and face __** i.small head ii.small eyes iii.wide-set eyes iv.epicanthal folds v.small lower jaw ** c. ****__ Heart __** i.congenital heart defects (90% of individuals) ** d. ****__ Bones __** i.severe growth retardation ii.clenched hands with 2nd and 5th fingers on top of the others ** e. ****__ Malformations __** i.digestive tract ii.urinary tract **iii.genitals** ** f. ****__ Crossed legs (preferred position) __** ** g. ****__ Hole, split, or cleft in the iris __** ** h. ****__ Kidney problems __** ** i. ****__ Low birth weight __** ** j. ****__ Low-set ears __** ** k. ****__ Separation between the left and right side of the rectus abdominis muscle __** ** l. ****__ Underdeveloped fingernails __** ** m. ****__ Undescended testicle __** ** n. ****__ Unusual shaped chest __** ** 3. **** Diagnosis ** Diagnosis of Edward's Disease usually occurs during pregnancy after suspicion based on an ultrasound. In the ultrasound, doctors may see deformations of the scull and brain, then the mother would most likely get an amniocentesis to diagnose. ** a. ****__ Head shape abnormalities __** ** b. ****__ Horseshoe kidney __** ** c. ****__ Hydronephrosis __** ** d. ****__ Polycystic kidney __** ** e. ****__ congenital heart disease __** ** 4. **** Prognosis ** Most individuals with Edward's disease are miscarried, and those who survive birth almost always die within the first year of life. ** a. ****__ Very low survival rate __** i. 95% die before birth **ii.Of live-born infants** // 1. //// only 50% live to 2 months // // 2. //// only 5–10% will survive their first year of life // **iii.Major causes of death** // 1. //// apnea // // 2. //// heart abnormalities // ** b. ****__ impossible to predict the exact prognosis of an Edwards Syndrome child during pregnancy __** ** c. ****__ major medical interventions often withheld from patients __** ** d. ****__ median life span is five to fifteen days __** ** e. ****__ 1% live to age ten __** ** f. ****__ mosaic Edward’s syndrome __** ** g. ****__ 50% do not survive beyond the first week of life __** ** h. ****__ Some children have survived to teenage years __** ** i. ****__ serious medical and developmental problems __** ** 5. **** Treatment ** There is no treatment for Edward's disease as it is a genetic disorder and children with Edward's often don't live long enough to recieve any treatment. ** a. ****__ no possible treatment __** ** b. ****__ genetic change, you cannot treat it. __** ** 6. **** 1 in 3000 babies get Edward’s Syndrome ** **7. ** **80% of those born with the disorder are female ** ** a. ****__ higher risk when the mother is older __**
 * 1. ****Edward’s Disease (Trisomy 18) **

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__Note__: Click on pictures for hyperlinks Great job delete that picture though its really grose and hard to look at. tourett's syndrome.