WordNet

an umbilical hernia at birth in which some abdominal organs push into the umbilical cord

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/09/26 07:46:27」(JST)

wiki en

An omphalocele (British English: omphalocoele) 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 (exomphalos). Omphalocele occurs in 2.5/10,000 births and is associated with a high rate of mortality (25%) and severe malformations, such as cardiac anomalies (50%) and neural tube defect (40%). Approximately 15% of live-born infants with omphalocele have chromosomal abnormalities.

Presentation

The sac, which is formed from an outpouching of peritoneum, 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 surgical treatment is made more difficult because the infant's abdomen is abnormally small, having had no need to expand to accommodate the developing organs.

Larger omphalocele are associated with a higher risk of cardiac defects.^[1]

Screening

An omphalocele is often detected through AFP screening or a detailed fetal ultrasound. Genetic counseling and genetic testing such as amniocentesis are usually offered during the pregnancy.

Causes

Caused by malrotation of the bowels while returning to the abdomen during development. Some cases of omphalocele are believed to be due to an underlying genetic disorder, such as Edward's syndrome (Trisomy 18)^[2]^[3] or Patau Syndrome (Trisomy 13).

Beckwith-Wiedemann syndrome is also associated with omphaloceles.

Related conditions

Gastroschisis is a similar birth defect, but in gastroschisis the umbilical cord is not involved and the lesion is usually to the right of midline. Parts of organs may be free in the amniotic fluid, and not enclosed in a membranous (peritoneal) sac. Gastroschisis is less frequently associated with other defects than omphalocele.

Other related syndromes are pentalogy of Cantrell, Beckwith-Wiedemann, and OEIS complex (omphalocele, exstrophy of the cloaca, imperforate anus, spinal defects).

International Omphalocele Awareness Day

International Omphalocele Awareness Day is celebrated annually on January 31, as part of Birth Defect Awareness Month. The first "O" Awareness Day was in 2012. Participants wear black and white, the color of the MOOs - Mothers of Omphaloceles, in an effort to raise awareness and support for omphalocele, and many share facts and information through e-mail, Facebook, Twitter,and Blogs.

In the United States, Nebraska and Arkansas have passed resolutions to officially recognize January 31 as International Omphalocele Awareness Day.^[4]^[5]

Support

MOO - Mothers of Omphaloceles - The Mothers of Omphaloceles is support group for parents, grandparents, and families of children born with omphalocele, as well as individuals born with omphalocele themselves. They can be found both through Yahoo Groups and on Facebook.

MOO - Mothers of Omphaloceles [Facebook]
Mothers of Omphaloceles [Yahoo Groups]
Omphalocele Awareness

Celebrities

Christina Milian's sister Danielle's new born baby son passed away on August 27, 2015 due to a rare condition called omphalocele.^[6]

References

^ "Impact of omphalocele size on associated conditions". Journal of Pediatric Surgery 43: 2216–2219. doi:10.1016/j.jpedsurg.2008.08.050.
^ Kanagawa SL, Begleiter ML, Ostlie DJ, Holcomb G, Drake W, Butler MG (2002). "Omphalocele in three generations with autosomal dominant transmission". J. Med. Genet. 39 (3): 184–5. doi:10.1136/jmg.39.3.184. PMC 1735073. PMID 11897819.
^ Yatsenko SA, Mendoza-Londono R, Belmont JW, Shaffer LG (2003). "Omphalocele in trisomy 3q: further delineation of phenotype". Clin. Genet. 64 (5): 404–13. doi:10.1034/j.1399-0004.2003.00159.x. PMID 14616763.
^ http://www.nebraskalegislature.gov/FloorDocs/104/PDF/Intro/LR21.pdf, Nebraska Legislative Resolution 21
^ http://www.arkleg.state.ar.us/assembly/2015/2015R/Bills/HR1006.pdf, House Resolution 1006, State of Arkansas
^ Quad. "Christina Milian Dead Nephew: Danielle’s Born With Abdominal Organs Outside The Body Because Of Navel Opening". jobsnhire.com. Retrieved 30 August 2015.

External links

The Brown Fetal Treatment Program - Providence, Rhode Island at Brown University
Fetal Treatment Center: Omphalocele at UCSF

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. ベックウィズ・ヴィーデマン症候群 beckwith wiedemann syndrome

English Journal

Long-term recurrence and chronic pain after repair for small umbilical or epigastric hernias: a regional cohort study.

Christoffersen MW1, Helgstrand F2, Rosenberg J3, Kehlet H4, Strandfelt P5, Bisgaard T6.
American journal of surgery.Am J Surg.2015 Apr;209(4):725-32. doi: 10.1016/j.amjsurg.2014.05.021. Epub 2014 Jul 31.
BACKGROUND: Mesh repair reduces the risk of reoperation for recurrence in patients with primary ventral hernias. However, reoperation for recurrence underestimates total recurrence (reoperation + clinical) and mesh reinforcement may induce chronic pain. This study investigated the total recurrence a
PMID 25172168

A case of splenic rupture within an umbilical hernia with loss of domain.

Fernando EJ1, Guerron AD, Rosen MJ.
Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract.J Gastrointest Surg.2015 Apr;19(4):789-91. doi: 10.1007/s11605-014-2742-7. Epub 2015 Jan 21.
INTRODUCTION: Massive ventral hernia with loss of abdominal domain is a particularly complex disease. We present a case of a massive umbilical hernia with loss of abdominal domain containing the small bowel, colon, and spleen that presented with spontaneous splenic rupture.CASE REPORT: The patient w
PMID 25605417

Concomitant abdominoplasty and umbilical hernia repair using the ventralex hernia patch.

Neinstein RM1, Matarasso A, Abramson DL.
Plastic and reconstructive surgery.Plast Reconstr Surg.2015 Apr;135(4):1021-5. doi: 10.1097/PRS.0000000000001135.
BACKGROUND: Patients requesting abdominoplasty often have concomitant umbilical hernias and may request simultaneous treatment. The vascularity of the umbilicus is potentially at risk during these combined procedures. In this study, the authors present a technique for treating umbilical hernias at t
PMID 25811568

Japanese Journal

舌縮小術を行ったBeckwith-Wiedemann症候群の1例

日本口腔科学会雑誌 61(1), 54-58, 2012
NAID 130004555767

Neonatal survival of prenatally diagnosed exomphalos

Pediatric surgery international 25(5), 413-416, 2009-05-01
NAID 10029305379

Outcomes of exomphalos : an institutional experience

Pediatric surgery international 25(2), 139-144, 2009-02-01
NAID 10029304231

Related Pictures

day old for a condition called exomphalos Exomphalos minor omphalocoele Ruptured Exomphalos: Primary abdominal

★リンクテーブル★

リンク元	「臍帯ヘルニア」
拡張検索	「exomphalos, macroglossia, gigantism症候群」

「臍帯ヘルニア」

Omphalocele
Classification and external resources
Specialty	medical genetics
ICD-10	Q79.2
ICD-9-CM	756.72
OMIM	164750
DiseasesDB	23647
MedlinePlus	000994
eMedicine	rad/483
MeSH	D006554

　　[★]

英: omphalocele (L), exomphalos, funicular hernia
関: 臍帯、臍ヘルニア umbilical hernia

まとめ

PED.1063 SSUR.688 NSU.759

ヘルニア

ヘルニア門：腹壁中央の皮膚筋膜欠損部

ヘルニア嚢：羊膜、腹膜

ヘルニア内容：肝臓、腸管などの腹腔内臓器

合併症

重篤な奇形を合併していることが多い：染色体、心奇形、消化管奇形、外表奇形、胸郭の低形成

症状

ベックウィズ・ウィーデマン症候群(Beckwith-Wiedemann症候群)との合併：低血糖に注意

「exomphalos, macroglossia, gigantism症候群」

　　[★] Exomphalos, Macroglossia, Gigantism症候群

[1] "Impact of omphalocele size on associated conditions". Journal of Pediatric Surgery 43: 2216–2219. doi:10.1016/j.jpedsurg.2008.08.050.

[pmid11897819-2] Kanagawa SL, Begleiter ML, Ostlie DJ, Holcomb G, Drake W, Butler MG (2002). "Omphalocele in three generations with autosomal dominant transmission". J. Med. Genet. 39 (3): 184–5. doi:10.1136/jmg.39.3.184. PMC 1735073. PMID 11897819.

[pmid14616763-3] Yatsenko SA, Mendoza-Londono R, Belmont JW, Shaffer LG (2003). "Omphalocele in trisomy 3q: further delineation of phenotype". Clin. Genet. 64 (5): 404–13. doi:10.1034/j.1399-0004.2003.00159.x. PMID 14616763.

[4] ttp://www.nebraskalegislature.gov/FloorDocs/104/PDF/Intro/LR21.pdf, Nebraska Legislative Resolution 21

[5] ttp://www.arkleg.state.ar.us/assembly/2015/2015R/Bills/HR1006.pdf, House Resolution 1006, State of Arkansas

[6] Quad. "Christina Milian Dead Nephew: Danielle’s Born With Abdominal Organs Outside The Body Because Of Navel Opening". jobsnhire.com. Retrieved 30 August 2015.

匿名

検索

案内

案内

exomphalos