Jejunal atresia

Title

Other Names:

Apple peel syndrome; Apple peel small bowel syndrome; APSB; Apple peel syndrome; Apple peel small bowel syndrome; APSB; Apple-peel intestinal atresia; Familial apple peel jejunal atresia; Atresia of small intestine; Intestinal atresia type IIIb; Jejunoileal atresia; Small intestinal atresia See More

Categories:

Congenital and Genetic Diseases; Digestive Diseases

Summary Summary

Jejunal atresia is a birth defect in a newborn characterized by partial or complete absence of the membrane connecting the small intestines to the abdominal wall (the mesentery). It causes a portion of the small intestines (the jejunum) to twist around an artery that supplies blood to the colon (the marginal artery). This leads to an intestinal blockage or "atresia." Common symptoms in the newborn include feeding difficulties, failure to thrive, vomiting bile (a yellowish-green fluid), abdominal swelling, and/or absence of bowel movements after birth. It typically occurs sporadically in people with no family history of the condition; however, more than one family member can rarely be affected, suggesting that there may be a genetic component in some cases. Jejunal atresia is typically treated with surgery.^[1]^[2]

Last updated: 10/26/2016

Symptoms Symptoms

Signs and symptoms of jejunal atresia vary but may include:^[3]^[4]

Feeding difficulties
Failure to thrive
Vomiting bile (a bitter-tasting, yellowish-green fluid)
Abdominal swelling, especially the upper middle part just below the breast bone
Absence of bowel movements after birth

Last updated: 10/27/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of abdomen morphology		0001438
Autosomal recessive inheritance		0000007
Jejunal atresia		0005235

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 9/1/2018

Cause Cause

Jejunal atresia occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an artery that supplies blood to the colon (the marginal artery). This leads to an intestinal blockage or "atresia."

Scientists suspect that it may be a consequence of disruption of blood flow in the developing fetus, leading to the death of cells and tissue in the affected area (necrosis). There may be various reasons that blood flow becomes disrupted.

Because jejunal atresia rarely occurs in more than one family member, there may be a genetic component or predisposition in some cases.^[1]^[2]

Last updated: 10/27/2016

Inheritance Inheritance

Most cases of jejunal atresia occur sporadically in people with no family history of the condition. However, it can rarely affect more than one family member. In these families, jejunal atresia is likely due to a genetic cause and appears to be inherited in an autosomal recessive or multifactorial manner.^[3]^[4]

Last updated: 10/26/2016

Diagnosis Diagnosis

In some cases, jejunal atresia may be diagnosed before birth on a prenatal ultrasound or fetal MRI.^[1]^[5] This is helpful because infants can be treated promptly after birth, reducing the risk of complications. Ultrasound findings that may suggest intestinal atresia include dilated loops of bowel, hyperechoic bowel (it appears brighter than it should), and accumulation of fluid (ascites). Because prenatal ultrasound is not always accurate, X-rays and imaging studies with contrast should be obtained after birth to confirm the diagnosis.^[1]

After birth, a diagnosis is often suspected based on the presence of characteristic signs and symptoms, which suggest intestinal obstruction. These may include abdominal distension, vomiting bile, and failure to pass stool. Imaging studies can then be ordered to confirm the diagnosis.^[1]

Last updated: 10/27/2016

Treatment Treatment

Jejunal atresia is typically treated with surgery as soon as possible. Total parenteral nutrition (TPN) is generally necessary for a period of time following surgery until normal meals are tolerated.^[3]^[2]

Last updated: 10/27/2016

Prognosis Prognosis

The long-term outlook (prognosis) for people with intestinal atresia is usually good, and in general, children do well post-operatively.^[1]^[2] Overall survival rates (including preterm babies) have reached 90%, with a surgical mortality of less than 1%.^[6] Most of the mortality occurs in infants with medical conditions such as prematurity or respiratory distress syndrome, associated anomalies, and complications related to short bowel syndrome.^[1]

Last updated: 10/27/2016

Statistics Statistics

According to the National Organization for Rare Disorders, jejunal atresia is a rare condition.^[3] In the United States, a disease or condition is considered rare if affects fewer than 200,000 persons. While we are unable to find the incidence of jejunal atresia alone, it has been reported that the incidence of jejunal and ileal atresia ranges from one in 1500 to one in 12,000 births.^[1] As of 2007, there were approximately 57 cases of jejunal atresia reported in the medical literature.^[3] However, it is likely that not all cases have been reported in the literature. The condition affects males and females in equal numbers.^[3]

Last updated: 10/26/2016

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane, Suite 104
Orlando, FL 32814
Telephone: 407-895-0802
E-mail: staff@birthdefects.org
Website: http://www.birthdefects.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Jejunal atresia. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

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

Have a question? Contact a GARD Information Specialist.

References References

David E Wesson. Intestinal atresia. UpToDate. Waltham, MA: UpToDate; September, 2016;
Biren P Modi. Intestinal Atresia, Stenosis, and Webs. Medscape Reference. February 17, 2016; http://emedicine.medscape.com/article/940615-overview#aw2aab6b2.
Jejunal Atresia. NORD. 2007; http://rarediseases.org/rare-diseases/jejunal-atresia/.
Atresia of small intestine. Orphanet. June 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201.
Small Bowel Atresia. Children's Hospital of Philadelphia. January 31, 2014; http://www.chop.edu/conditions-diseases/small-bowel-atresia.
Jaime Shalkow. Small Intestinal Atresia and Stenosis. Medscape Reference. January 7, 2015; http://emedicine.medscape.com/article/939258-overview.