Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | |
| fr | Syndrome d'agénésie sacrée-ossification anormale des corps vertébraux-persistance de la notochorde | |
| de | Sakrale Agenesie-abnormale Verknöcherung der Wirbelkörper-persistierender notochordaler Kanal-Syndrom | |
| es | Síndrome de agenesia sacra-osificación anómala de los cuerpos vertebrales-canal notocordal persistente | |
| it | Sindrome da agenesia sacrale, anomalie dell'ossificazione dei corpi vertebrali, persistenza del canale notocordale | |
| nl | Sacrale agenesie - abnormale ossificatie van wervellichamen - persisterende chorda dorsalis-syndroom | |
| pt | Síndrome de agenésia do sacro-ossificação anómala dos corpos vertebrais-persistência do notocórdio | |
| pl | Zespół agnezja kości krzyżowej-nieprawidłowe kostnienie trzonów kręgów-przetrwały kanał struny grzbietowej | |
| cs | Syndrom zahrnující sakrální agenezi, abnormální osifikaci obratlových těl a perzistentní notochordální kanál | |
| uk | Синдром сакральної агенезії-аномального окостеніння тіл хребців-персистуючого нотохордального каналу | |
| zh | 骶骨发育不全-椎体成骨异常-持续性脊索管综合征 | |
| tr | Sakral agenezi-vertebral cisimlerin anormal ossifikasyonu-kalıcı notokordal kanal sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615709 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| MONDO | 0014314 | E | validated | |
| UMLS | C4751569 | 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:268843Malformation of the neurenteric canal, spinal cord and column
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBXT | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11515 | ENSG00000164458 | 601397 | 6q27 | T-box transcription factor T | 24253444[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 24369075[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24369075[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/397927
- This record as JSON: /data/d/397927.json