Syndromes and disorders associated with omphalocele (iii)

Lymph Node Infarction, Diabetes, Prader Willi Syndrome, Buerger's Disease, Clark's Syndrome, Axillary Web Syndrome, Post Thrombotic Syndrome, Sed Rate, Chronic Myofascial Pain, Kawasaki Disease, Duncan's Syndrome, pulmonary edema, thoracentesis, pleurodesis, lung fluid, Lymphangioleiomyomatosis (LAM), Restless Leg Syndrome, Inflammation, Lipomas, Crohn's Disease, Panniculitis, Hidradenitis Suppurativa, Phelan-McDermid Syndrome - 22q13 deletion, lymphoproliferative disorders, blood tests. amniotic band syndrome, nerve damage, hives, leg edema, omphalocele, Podoconiosis

Moderators: jenjay, Cassie, patoco, Birdwatcher, Senior Moderators

Syndromes and disorders associated with omphalocele (iii)

Postby patoco » Sat Jul 21, 2007 11:41 am

Syndromes and disorders associated with omphalocele (iii): single gene
disorders, neural tube defects, diaphragmatic defects and others.

Taiwan J Obstet Gynecol. 2007 Jun

Chen CP.
Departments of Obstetrics and Gynecology, and Medical Research, Mackay
Memorial Hospital, Taipei, Department of Biotechnology and
Bioinformatics, Asia University, and College of Chinese Medicine,
China Medical University, Taichung, Taiwan.

Key Words: congenital malformation, diaphragmatic hernia, genetics, neural tube defect, omphalocele, single gene disorder

Omphalocele can be associated with single gene disorders, neural tube
defects, diaphragmatic defects, fetal valproate syndrome, and
syndromes of unknown etiology.

This article provides a comprehensive review of omphalocele-related
disorders: otopalatodigital syndrome type II; Melnick-Needles
syndrome; Rieger syndrome; neural tube defects; Meckel syndrome;
Shprintzen-Goldberg omphalocele syndrome; lethal omphalocele-cleft
palate syndrome; cerebro-costo-mandibular syndrome; fetal valproate
syndrome; Marshall-Smith syndrome; fibrochondrogenesis; hydrolethalus
syndrome; Fryns syndrome; omphalocele, diaphragmatic defects, radial
anomalies and various internal malformations; diaphragmatic defects,
limb deficiencies and ossification defects of skull; Donnai-Barrow
syndrome; CHARGE syndrome; Goltz syndrome; Carpenter syndrome;
Toriello-Carey syndrome; familial omphalocele; Cornelia de Lange
syndrome; C syndrome; Elejalde syndrome; Malpuech syndrome; cervical ribs, Sprengel anomaly, anal atresia and urethral obstruction;
hydrocephalus with associated malformations; Kennerknecht syndrome;
lymphedema, atrial septal defect and facial changes; and craniosynostosismental retardation syndrome of Lin and Gettig.

Perinatal identification of omphalocele should alert one to the
possibility of omphalocele-related disorders and familial inheritance
and prompt a thorough genetic counseling for these disorders.

http://health.elsevier.com/journals/pub ... journals=5

* * * * *

Omphalocele

Definition

An omphalocele is a birth defect in which the infant's intestine or other abdominal organs stick out of the belly button (navel). In babies with an omphalocele, the intestines are covered only by a thin layer of tissue and can be easily seen.

An omphalocele is a type of hernia. Hernia means "rupture.”

See also: Umbilical hernia

Causes, incidence, and risk factors

An omphalocele develops as a baby grows inside the mother's womb. The muscles in the abdominal wall (umbilical ring) do not close properly. As a result, the intestine remains outside the umbilical cord.

Approximately 25 - 40% of infants with an omphalocele have other birth defects. They may include genetic problems (chromosomal abnormalities), congenital diaphragmatic hernia, and heart defects.

Symptoms

An omphalocele can be clearly seen, because the abdominal contents stick out (protrude) through the belly button area.

There are different sizes of omphaloceles. In small ones, only the intestines stick out. In larger ones, the liver or spleen may stick out of the body as well.

Signs and tests

Prenatal ultrasounds often identify infants with an omphalocele before birth. Otherwise, physical examination of the infant is sufficient for your health care provider to diagnose this condition. Testing is usually not necessary.

Treatment

Omphaloceles are repaired with surgery, although not always immediately. A sac protects the abdominal contents and allows time for other more serious problems (such as heart defects) to be dealt with first, if necessary.

To fix an omphalocele, the sac is covered with a special synthetic material, which is then stitched in place. Slowly, over time, the abdominal contents are pushed into the abdomen.

When the omphalocele can comfortably fit within the abdominal cavity, the synthetic material is removed and the abdomen is closed.

Expectations (prognosis)

Complete recovery is expected after surgery for an omphalocele. However, omphaloceles are frequently associated with other birth defects. How well a child does depends on any other conditions.

If the omphalocele is identified before birth, the mother should be closely monitored to make sure the unborn baby remains healthy. Plans should be made for careful delivery and immediate management of the problem after birth. The baby should be delivered in a medical center that is skilled with repairing the omphalocele. The baby's outcome is improved if he or she does not need to be taken to another center for further treatment.

Parents should consider screening the unborn baby for other genetic problems that are associated with this condition.

Complications

Intestinal infection
Death of the intestinal tissue related to dryness or trauma to the unprotected intestine

Calling your health care provider

This problem is diagnosed and repaired in the hospital at birth. After returning home, call your health care provider if the infant develops any of these symptoms:

Feeding problems
Vomiting (not normal baby spitting-up)
Green or yellowish green vomitus
Distended abdomen
Decreased bowel movements
Fever
Behavioral changes that are worrisome
References Return to top

Townsend CM, Beauchamp RD, Evers BM, Mattox KL. Sabiston Textbook of Surgery, 17th ed. St. Louis, M0: WB Saunders; 2004:2116-2117.

Ledbetter DJ . Gastroschisis and omphalocele. Surg Clin North Am. April 2006; 86(2): 249-60, vii.

Update Date: 8/18/2006

Updated by: Benjamin W. Van Voorhees, MD, MPH, Assistant Professor of Medicine and Pediatrics, The University of Chicago, Chicago, IL. Review provided by VeriMed Healthcare Network.

http://www.nlm.nih.gov/medlineplus/ency ... 000994.htm

* * * * *

What is an omphalocele?

An omphalocele is a congenital (found at birth) malformation in which variable amounts of abdominal contents protrude into the base of the umbilical cord. As the fetus grows in pregnancy, the intestines grow and get longer and project from the abdomen into the umbilical cord. This growth is taking place from the sixth to the tenth week of pregnancy. Normally the intestines return rapidly into the abdomen by the eleventh week of pregnancy. If this fails to happen, an omphalocele is present. It is important to remember that you did not do anything to make this happen. However, more than half of all infants born with an omphalocele may have other birth defects. Some of these defects may be serious.

What does an omphalocele look like?

An omphalocele is covered by a clear sac or membrane through which the umbilical cord is inserted. The sac may contain only a small loop of bowel or most of the bowel and other abdominal organs. If the sac ruptures, the abdominal contents move through the opening in the abdominal wall. The abdomen is smaller than usual making replacement of the abdominal contents more difficult.

How is an omphalocele treated?

Surgery must be delayed until the baby is doing well if the omphalocele sac is intact. Small omphaloceles are repaired immediately to prevent infection or tissue damage. Larger omphaloceles may require gradual reduction by enlarging the abdominal cavity to accommodate the intestinal contents. A Silastic (plastic) pouch is placed over the abdominal contents to contain the bowel and aid in reduction until surgical closure is possible. When the abdominal contents have returned to the abdominal cavity with the aid of gravity, the opening is surgically closed. Returning the abdominal contents into the abdominal cavity can take up to ten days. The baby is usually on a breathing machine (or ventilator) during the time it takes for this return. Non-operative treatment involves the application of Silvadene cream to toughen the sac. Surgery is postponed in these cases for 6-12 months to allow the abdominal cavity to enlarge as the baby grows. If the omphalocele ruptures, this is a medical emergency and surgery would be performed immediately. Complications from omphalocele include infection, rupture and intestinal obstruction. Should you have any further questions, please do not hesitate to ask any member of the Pediatric Surgery Team.

Where can a parent get help and talk with other parents about omphaloceles?

There is a new web site called www.omphalocele.com which is owned by a group called Mothers of Omphaloceles (MOOs). The site serves as a support group, a source of non-technical information, and a gateway into the personal websites of many MOOs and omphalocele kids.

TEXAS PEDIATRIC SURGICAL ASSOCIATES
Surgeons for Infants, Children, and Adolescents
(832) 325-7234

http://www.pedisurg.com/PtEduc/Omphalocele.htm

* * * * *

See Also:

Omphalocele and Gastroschisis

http://www.emedicine.com/ped/topic1642.htm

Omphalocele

http://www.emedicine.com/radio/topic483.htm

* * * * *

Pat O'Connor
Lymphedema People
http://www.lymphedemapeople.com
patoco
Site Admin
 
Posts: 2175
Joined: Thu Jun 08, 2006 9:07 pm

Return to Related Medical Conditions

Who is online

Users browsing this forum: No registered users and 0 guests


cron