Omphalocele 815783 214125173 2008-05-22T05:24:12Z Mr Bungle 1576282 remove dead link {{Infobox_Disease | Name = Omphalocele | Image = Omphalocele.jpg| Caption = | DiseasesDB = 23647 | ICD10 = {{ICD10|Q|79|2|q|65}} | ICD9 = {{ICD9|756.79}} | ICDO = | OMIM = 164750 | MedlinePlus = | eMedicineSubj = rad | eMedicineTopic = 483| MeshID = D006554 | }} An '''omphalocele''' is a type of [[abdominal wall defect]] in which the [[intestine]]s, [[liver]], and occasionally other [[Organ (anatomy)|organ]]s remain outside of the [[abdomen]] in a sac because of a defect in the development of the [[Abdomen#Muscles of the abdominal wall|muscles of the abdominal wall]]. ==Presentation== The sac protrudes in the midline, through the [[umbilicus]] (navel). It is normal for the intestines to protrude from the abdomen, into the umbilical cord, until about the tenth week of [[pregnancy]], after which they return to inside the fetal abdomen. The omphalocele can be mild, with only a small loop of intestines present outside the abdomen, or severe, containing most of the abdominal organs. In severe cases [[Abdominal surgery|surgical treatment]] is made more difficult because the infant's abdomen is abnormally small because it had no need to expand to accommodate the developing organs. ==Screening== An omphalocele is often detected through [[AFP screening]] or a detailed fetal [[ultrasound]]. [[Genetic counseling]] and [[genetic testing]] such as [[amniocentesis]] is usually offered during the pregnancy. ==Causes== Some cases of omphalocele are believed to be due to an underlying genetic disorder.<ref name="pmid11897819">{{cite journal |author=Kanagawa SL, Begleiter ML, Ostlie DJ, Holcomb G, Drake W, Butler MG |title=Omphalocele in three generations with autosomal dominant transmission |journal=J. Med. Genet. |volume=39 |issue=3 |pages=184–5 |year=2002 |pmid=11897819 |doi=10.1136/jmg.39.3.184}}</ref><ref name="pmid14616763">{{cite journal |author=Yatsenko SA, Mendoza-Londono R, Belmont JW, Shaffer LG |title=Omphalocele in trisomy 3q: further delineation of phenotype |journal=Clin. Genet. |volume=64 |issue=5 |pages=404–13 |year=2003 |pmid=14616763 |doi=10.1034/j.1399-0004.2003.00159.x}}</ref> ==Related conditions== ''[[Gastroschisis]]'' is a similar birth defect, but the umbilical cord is not involved, and parts of organs may be in the amniotic fluid, and not enclosed in a membranous sac. ==References== <references/> ==External links== * [http://bms.brown.edu/pedisurg/Fetal/Omphalocele.html The Brown Fetal Treatment Program - Providence, Rhode Island] at [[Brown University]] *[http://fetus.ucsfmedicalcenter.org/omphalocele/ Fetal Treatment Center: Omphalocele] at [[UCSF]] [[Category:congenital disorders]] {{med-stub}} {{Congenital malformations and deformations of musculoskeletal system}} [[de:Omphalozele]] [[fr:Omphalocèle]] [[it:Omfalocele]] [[pl:Przepuklina pępowinowa]] [[tr:Omfalosel]]