Familial intestinal malrotation
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- All ages
- Status
- active
A rare familial intestinal malformation characterized by failure of the rotation of the developing gastrointestinal tract around the superior mesenteric artery during embryonic development, resulting in a spectrum of abnormalities of intestinal position and fixation. Patients most typically present in the neonatal period with midgut volvulus, which can lead to short bowel syndrome or even death. Signs and symptoms include bilious vomiting, feeding intolerance, failure to thrive, constipation, bloody stools, or intermittent apnea. The condition may also manifest later in life with complications like kinking or hernias and a broad range of intestinal symptoms. It can be an isolated finding or occur in association with other anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial intestinal malrotation | |
| fr | Malrotation intestinale familiale | |
| de | Familiäre intestinale Malrotation | |
| es | Malrotación intestinal familiar | |
| it | Malrotazione intestinale familiare | |
| nl | Familiale intestinale malrotatie | |
| pt | Malrotação intestinal familiar | |
| pl | Rodzinny niedokonany zwrot jelit | |
| cs | Familiární střevní malrotace | |
| uk | Сімейна кишкова мальротація | |
| zh | 家族性肠道旋转不良 | |
| tr | Ailesel bağırsak malrotasyonu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q43.3 | NTBT | attributed | validated |
| MONDO | 0034819 | E | validated | |
| UMLS | C0221210 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:108967Non-syndromic intestinal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2454OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002007 | Frontal bossing | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0002566 | Intestinal malrotation | |
| HP:0000637 | Long palpebral fissure | |
| HP:0002580 | Volvulus | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/508410
- This record as JSON: /data/d/508410.json