Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
historical
Synonyms: Nova syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal
- Status
- historical
A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Port-wine nevi-mega cisterna magna-hydrocephalus syndrome | Nova syndrome |
| fr | Syndrome de Nova | Syndrome de naevus en tache de vin-citerne cérébello-médullaire élargie-hydrocéphalie |
| de | Portweinnaevus - Megacisterna magna - Hydrozephalus | NOVA-Syndrom |
| es | Síndrome de mancha en vino de Oporto-megacisterna magna-hidrocefalia | Síndrome de Nova |
| it | Sindrome nevo a macchia vino Porto - mega cisterna magna - idrocefalo | Nevo vinoso - mega cisterna magna - idrocefalo · Sindrome di Nova |
| nl | Wijnvlekken - mega cisterna magna - hydrocefalus | Novasyndroom |
| pt | Síndrome de nevo vinho do Porto-mega cisterna magna-hidrocefalia | Síndrome Nova |
| pl | Znamię typu winnej plamy- mega cisterna magna - wodogłowie | Zespół Nova |
| cs | Syndrom zahrnující naevus flammeus, zvětšenou cisterna magna a hydrocefalus | Novův syndrom |
| uk | Синдром винного невусу-mega cisterna magna-гідроцефалії | Синдром Нова |
| zh | 葡萄酒色痣-巨大枕大池-脑积水综合征 | Nova综合征 |
| tr | Liman şarabı nevi-mega cisterna magna-hidrosefali sendromu | Nova sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q03.8 | NTBT | attributed | validated |
| MONDO | 0100367 | E | validated | |
| UMLS | C5191040 | 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 (6):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:730406Genetic syndrome with a posterior fossa cystic malformation as a major feature
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:458830Rare capillary malformation with associated anomalies
rare developmental anomalies during embryogenesis; rare genetic diseases; rare circulatory system diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:729566Syndrome with a posterior fossa cystic malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological 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 | 5 cases | Worldwide | Case(s) | Validated | 501430[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_501430[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
10 annotations · validated 2017-09-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002334 | Abnormality of the cerebellar vermis | |
| HP:0005306 | Capillary hemangioma | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0100308 | Cerebral cortical hemiatrophy | |
| HP:0011427 | Enlarged fetal cisterna magna | |
| HP:0010733 | Naevus flammeus of the eyelid | |
| HP:0012157 | Subcortical cerebral atrophy | |
| Frequent (79-30%) | ||
| HP:0000238 | Hydrocephalus | |
| Occasional (29-5%) | ||
| HP:0001250 | Seizure | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2703
- This record as JSON: /data/d/2703.json