Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Synonyms: Gershoni-Baruch syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalized syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome | Gershoni-Baruch syndrome |
| fr | Syndrome d'omphalocèle-hernie diaphragmatique-anomalie cardio-vasculaire-anomalie du rayon radial | Syndrome Gershoni-Baruch |
| de | Omphalozele-Diaphragmahernie-kardiovaskuläre Anomalien-Radialstrahlendefekt-Syndrom | Gershoni-Baruch-Syndrom |
| es | Síndrome de onfalocele-hernia diafragmática-anomalías cardiovasculares-defecto del rayo radial | Síndrome de Gershoni-Baruch |
| it | Sindrome onfalocele-ernia diaframmatica-anomalie cardiovascolari-difetti del radio | |
| nl | Omfalocele - hernia diaphragmatica - cardiovasculaire anomalieën - radiale straal defect-syndroom | Syndroom van Gershoni-Baruch |
| pt | Hérnia diafragmática onfalocele-anomalias cardiovasculares - síndrome do defeito do raio radial | |
| pl | Zespół przepukliny pępowinowej, przepukliny przeponowej, wad układu sercowo-naczyniowego oraz wad promieniowej strony kończyny górnej | = en |
| cs | Syndrom zahrnující omfalokélu, brániční hernii, kardiovaskulární anomálie a defekty radiálního paprsku | Gershoni-Baruch syndrome · Gershoni-Baruchové syndrome |
| uk | Синдром омфалоцеле-діафрагмальної грижи-серцево-судинних аномалій-променевого дефекту | Синдром Гершоні-Баруха |
| zh | 脐膨出-膈疝-心血管异常-放射线缺陷综合征 | Gershoni-Baruch综合征 |
| tr | Omfalosel-diyafram fıtığı-kardiyovasküler anomaliler-radyal ışın defekti sendromu | Gershoni-Baruch sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609545 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0044649 | E | validated | |
| MeSH | C563701 | E | validated | |
| UMLS | C1836007 | E | validated | |
| GARD | 10354 | 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 (8):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:180779Syndromic diaphragmatic or thoracic malformation
rare surgical thoracic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 26639892[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26639892[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/496693
- This record as JSON: /data/d/496693.json