ORPHA:2368
Gastroschisis
Synonyms: Laparoschisis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal
- Status
- active
A rare abdominal wall malformation characterized by the bowel protruding from the fetal abdomen on the right lateral base of the umbilical cord, and without a covering sac.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gastroschisis | Laparoschisis |
| fr | Laparoschisis | Gastroschisis |
| de | Gastroschisis | = en |
| es | Gastrosquisis | Laparosquisis |
| it | Gastroschisi | Laparoschisi |
| nl | Gastroschisis | = en |
| pt | Gastrosquisis | Laparosquisis |
| pl | Wytrzewienie | = en |
| cs | Gastroschiza | Laparoschisis · Laparoschiza · Rozštěp břišní stěny |
| uk | Гастрошизис | Лапароскопія |
| zh | 腹裂 | 腹裂 |
| tr | Gastroşiz | Laparoşiz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 230750 | E | validated | |
| ICD-10 | Q79.3 | E | specific | validated |
| ICD-11 | LB02 | E | specific | validated |
| MONDO | 0009264 | E | validated | |
| MeSH | D020139 | E | validated | |
| UMLS | C0265706 | E | validated | |
| GARD | 8661 | E | validated | |
| MedDRA | 10018046 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:108977Non-syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:365563Primary short bowel syndrome
rare gastroenterological diseases; rare transplant-related disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
20 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 6.2 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 18.1 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 9.9 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 25.8 / 100 000 | Malta | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2006[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 17.5 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 36 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.6 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11 / 100 000 | Portugal | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.6 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 12.3 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 36.3 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 9.5 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Validated | ORPHANET_[EXPERT] |
| Prevalence at birth | 1-5 / 10 000 | 16.9 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010-2016[OTHER]_[EXPERT] |
| Prevalence at birth | 1-5 / 10 000 | 29.4 / 100 000 | Austria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 14.6 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 22.7 / 100 000 | Croatia | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 21.3 / 100 000 | Denmark | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 17.7 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 41.6 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
13 annotations · validated 2023-08-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001543 | Gastroschisis | |
| Frequent (79-30%) | ||
| HP:0034207 | Abnormal fetal gastrointestinal system morphology | |
| HP:0010881 | Abnormality of the umbilical cord | |
| HP:0011432 | Elevated maternal circulating alpha-fetoprotein concentration | |
| HP:0001511 | Intrauterine growth retardation | |
| Occasional (29-5%) | ||
| HP:0100016 | Abnormality of mesentery morphology | |
| HP:0011100 | Intestinal atresia | |
| HP:0002566 | Intestinal malrotation | |
| HP:0031368 | Intestinal perforation | |
| HP:0001562 | Oligohydramnios | |
| HP:0001561 | Polyhydramnios | |
| HP:0001622 | Premature birth | |
| HP:0002580 | Volvulus | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 32491817[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2368
- This record as JSON: /data/d/2368.json