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Disease Profile

Jejunal atresia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Apple peel syndrome; Apple peel small bowel syndrome; APSB;

Categories

Congenital and Genetic Diseases; Digestive Diseases

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]

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

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.

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

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]

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]

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]

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

    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. 
      • 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.

        References

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

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