ORPHA:1906
Fetal valproate spectrum disorder
Synonyms: Fetal valproate syndrome · Fetal valproic acid syndrome · Valproic acid embryopathy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare teratogenic disease due to embryo/fetal exposure to valproic acid (VPA) and subsequently characterized by a distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fetal valproate spectrum disorder | Fetal valproate syndrome · Fetal valproic acid syndrome · Valproic acid embryopathy |
| fr | Embryofoetopathie au valproate | Embryofoetopathie à l'acide valproïque · Embryopathie au valproate · Embryopathie à l'acide valproïque · Exposition anténatale au valproate · Exposition anténatale à l'acide valproïque |
| de | Fetale Valproat-Spektrumstörung | Fetales Valproinsäure-Syndrom · Valproat-Embryopathie |
| es | Trastorno del espectro del síndrome fetal por valproato | Embriopatía por ácido valproico · Síndrome del ácido valproico fetal · Síndrome fetal por valproato |
| it | Embriopatia da acido valproico | Esposizione prenatale all'acido valproico |
| nl | Foetaal valproaat-spectrumstoornis | Foetaal valproaat-syndroom · Foetaal valproïnezuur-syndroom · Valproïnezuur-embryopathie |
| pt | Espectro clínico do valproato fetal | Embriofetopatia por valproato |
| pl | Płodowy zespół walproinianowy | Płodowy zespół kwasu walproinowego |
| cs | Fetální valproátový syndrom | Fetální syndrom indukovaný kyselinou valproovou |
| uk | Спектр вальпроатової хвороби плоду | Фетальний вальпроатний синдром · Синдром вальпроєвої кислоти плода · Ембріопатія вальпроєвої кислоти |
| zh | 胎儿丙戊酸盐综合征 | 胎儿丙戊酸综合征 |
| tr | Fetal valproat sendromu | Valproik asit embriyopatisi · fetal valproik asit sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609442 | E | validated | |
| ICD-10 | Q86.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.03 | E | specific | validated |
| MONDO | 0012275 | E | validated | |
| MeSH | C536525 | E | validated | |
| UMLS | C0236026 | E | validated | |
| GARD | 5447 | E | validated | |
| MedDRA | 10016524 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:370068Fetal anticonvulsant syndrome
rare developmental anomalies during embryogenesis; rare disorders due to toxic effects; rare teratologic disorders - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:138059Teratogenic Pierre Robin syndrome
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_Dr Asher Ornoy[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.3 / 100 000 | Switzerland | Value and class | Validated | 29753923[PMID]_EUROCAT European surveillance of congenital anomalies 2005-2014[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.2 / 100 000 | Germany | Value and class | Validated | 29753923[PMID]_EUROCAT European surveillance of congenital anomalies 2005-2014[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.3 / 100 000 | Ireland | Value and class | Validated | 29753923[PMID]_EUROCAT European surveillance of congenital anomalies 2005-2014[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.02 / 100 000 | Europe | Value and class | Validated | 29753923[PMID]_EUROCAT European surveillance of congenital anomalies 2005-2014[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.7 / 100 000 | Reunion | Value and class | Validated | 29753923[PMID]_EUROCAT European surveillance of congenital anomalies 2005-2014[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Belgium | Value and class | Validated | 29753923[PMID]_EUROCAT European surveillance of congenital anomalies 2005-2014[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.7 / 100 000 | Netherlands | Value and class | Validated | 29753923[PMID]_EUROCAT European surveillance of congenital anomalies 2005-2014[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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000457 | Depressed nasal ridge | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000286 | Epicanthus | |
| HP:0000343 | Long philtrum | |
| HP:0000160 | Narrow mouth | |
| HP:0001539 | Omphalocele | |
| HP:0003196 | Short nose | |
| HP:0000233 | Thin vermilion border | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1906
- This record as JSON: /data/d/1906.json