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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Jejunal atresia


Other Names for this Disease

  • Apple peel small bowel syndrome
  • Apple peel syndrome
  • Apple-peel intestinal atresia
  • APSB
  • Familial apple peel jejunal atresia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Our first born child had jejunal artresia. What are the chances of any further children we may have suffering from the same condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is jejunal atresia?

Jejunal atresia is a genetic disorder in which people are born missing part of the fold of the stomach membrane that connects the small intestine to the back wall of the abdomen. As a result, one of the three portions of the small intestine (the jejunum) twists around one of the arteries of the colon called the marginal artery and causes a blockage (atresia). Jejunal atresia is the most common cause of bowel obstruction in the newborn.[1][2] The defect may occur alone (isolated) or with other birth defects.  The symptoms and treatment vary from patient to patient.
Last updated: 6/8/2011

Is jejunal atresia genetic?

Destruction of the superior mesenteric artery may be the underlying cause for jejunal atresia. Familial cases of the birth defect suggest a genetic cause with an autosomal recessive mode of inheritance, which means that a person needs to inherit two mutated (changed) copies of the gene associated with the condition in order to have the disease.[1][2]
Last updated: 5/27/2009

What is a couple's chance of having additional children with jejunal atresia if they have already had one child with the condition?

According to some estimates, a couple's chances of having another child with jejunal atresia is about 18%.[1] However, to find out your specific chances of having another child with jejunal atresia, we recommend you schedule a genetics consultation. Genetics clinics are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral.

The following online resources can also help you find a genetics professional in your community:

  * GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
http://www.geneclinics.org/

  * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
http://www.nsgc.org/resourcelink.asp

  * Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
http://www.kumc.edu/gec/prof/genecntr.html

 

Last updated: 5/27/2009

References
  • Bianchi DW, Crombleholme TM, D'Alton ME. Fetology. US: McGraw-Hill Companies; 2000;
  • Reddy KS. NORD Guide to Rare Disorders. Philadelphia: Lippincott Williams & Wilkins; 2003;
Other Names for this Disease
  • Apple peel small bowel syndrome
  • Apple peel syndrome
  • Apple-peel intestinal atresia
  • APSB
  • Familial apple peel jejunal atresia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.