Atresia of small intestine
General Information (adopted from Orphanet):
| Synonyms, Signs: |
APPLE PEEL SMALL BOWEL SYNDROME APSB apple peel syndrome Christmas tree syndrome Jejunal atresia Small intestinal atresia |
| Number of Symptoms | 5 |
| OrphanetNr: | 1201 |
| OMIM Id: |
243600
|
| ICD-10: |
Q41 |
| UMLs: |
C0266172 C0266175 |
| MeSH: |
C538260 |
| MedDRA: |
10010626 |
| Snomed: |
204702007 360491009 84296002 |
Prevalence, inheritance and age of onset:
| Prevalence: | 16 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive Multifactorial Not applicable [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic intestinal malformation
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease Primary short bowel syndrome -Rare gastroenterologic disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0005235) | Jejunal atresia | 3 / 7739 | ||||
|
|
(OMIM) | Superior mesenteric artery obliteration | 1 / 7739 | ||||
|
|
(OMIM) | Distal small bowel twisted around the marginal artery | 1 / 7739 | ||||
|
|
(OMIM) | Mesenteric agenesis | 1 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Jejunal atresia is the most common cause of bowel obstruction in the newborn. In this condition, because of agenesis of the mesentery, the distal small bowel comes straight off the caecum and twists around the marginal artery, suggesting ... |
| Clinical Description OMIM |
Mishalany and Najjar (1968) observed 3 affected out of 16 liveborn offspring of first-cousin parents; a fourth sib died at home with congenital high intestinal obstruction, bringing the number to 4 affected out of 18 offspring in this ... |