Rare diseases · Sign or symptom
Intestinal malrotation
HP:0002566
What it means
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Rare diseases that can present with this53
Very common80–99%
3Common30–79%
11- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- Chronic intestinal pseudoobstruction syndrome
- Cloacal exstrophy
- Congenital alveolar capillary dysplasia
- Congenital diaphragmatic hernia
- Congenital short bowel syndrome
- Hardikar syndrome
- Kapur-Toriello syndrome
- Megacystis-microcolon-intestinal hypoperistalsis syndrome
- NPHP3-related Meckel-like syndrome
- Small bowel atresia
Sometimes5–29%
32- 12q14microdeletion syndrome
- 14q24.1q24.3microdeletion syndrome
- 1q44microdeletion syndrome
- 22q11.2deletion syndrome
- 3C syndrome
- 46,XX difference of sex development-anorectal anomalies syndrome
- Classic bladder exstrophy
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
and 24 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Gut malrotation · Malrotation
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.