Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
Synonyms: Serpentine-like syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome | Serpentine-like syndrome |
| fr | Syndrome de brachy-oesophage congénital-estomac intrathoracique-anomalies vertébrales | Syndrome Serpentine-like |
| de | Kongenitaler Brachyösophagus-intrathorakaler Magen-Wirbelanomalien-Syndrom | |
| es | Síndrome congénito de braquiesófago-estómago intratorácico-anomalías vertebrales | Síndrome congénito similar a Serpentine |
| it | Sindrome congenita del brachiesofago-stomaco intratoracico-anomalie vertebrali | Sindrome Serpentine-like |
| nl | Congenitale brachyoesofagus - intrathoracale maag - vertebrale anomalieën-syndroom | Serpentine-achtig syndroom |
| pt | Síndrome de braquiesófago congénito-estômago intratorácico-anomalias vertebrais | Síndrome serpentine-like |
| pl | Zespół wrodzonego krótkego przełyku-przemieszczenia żołądka do klatki piersiowej- wad kręgów | Zespół przypominający ułożenie węża/serpentynę |
| cs | Syndrom zahrnující vrozený brachyezofagus, nitrohrudní uložení žaludku a obratlové anomálie | Plazu podobný syndrom |
| uk | Вроджений синдром брахіезофагуса-внутрішньогрудних шлунково-хребцевих аномалій | Змієподібний синдром |
| zh | 先天性食管短缩-胸腔胃-椎体畸形综合征 | 索样综合征 |
| tr | Doğumsal brakiözofagus-intratorasik mide-vertebral anomaliler sendromu | Serpantin benzeri sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0034895 | E | validated | |
| UMLS | C5680208 | 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 (2):
- ORPHA:371445Genetic syndromic esophageal malformation
rare genetic diseases - ORPHA:108961Syndromic esophageal malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical 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 | 8 cases | Worldwide | Case(s) | Validated | 27836748[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27836748[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/514352
- This record as JSON: /data/d/514352.json