x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Atresia of small intestine

Disease definition

Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis (see this term). The most important cause of mortality is short bowel syndrome (see this term), encountered in 65% of cases.

ORPHA:1201

  • Synonym(s):
    • Apple peel syndrome
    • Intestinal atresia type IIIb
    • Jejunal atresia
    • Jejunoileal atresia
    • Small intestinal atresia
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal recessive or Multigenic/multifactorial or Not applicable 
  • Age of onset: Neonatal
  • ICD-10: Q41.0  Q41.1  Q41.2  Q41.8  Q41.9
  • OMIM: 243600
  • UMLS: C0021828  C0266172  C0266175
  • MeSH: C538260
  • GARD: 140
  • MedDRA: 10010626

Detailed information

Professionals

Additional information

Further information on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.