Fetal valproate syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
FETAL VALPROATE SYNDROME FVS Fetal valproic acid syndrome |
| Number of Symptoms | 8 |
| OrphanetNr: | 1906 |
| OMIM Id: |
609442
|
| ICD-10: |
Q86.8 |
| UMLs: |
C0236026 |
| MeSH: |
C536525 |
| MedDRA: |
10016524 |
| Snomed: |
17231009 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Fetal anticonvulsant syndrome
-Rare developmental defect during embryogenesis Teratogenic Pierre Robin syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease |
Symptom Information:
|
|
(HPO:0000286) | Epicanthus | Very frequent [Orphanet] | 371 / 7739 | |||
|
|
(HPO:0000233) | Thin vermilion border | Very frequent [Orphanet] | 124 / 7739 | |||
|
|
(HPO:0000457) | Depressed nasal ridge | Very frequent [Orphanet] | 85 / 7739 | |||
|
|
(HPO:0000343) | Long philtrum | Very frequent [Orphanet] | 262 / 7739 | |||
|
|
(HPO:0000160) | Narrow mouth | Very frequent [Orphanet] | 188 / 7739 | |||
|
|
(HPO:0002714) | Downturned corners of mouth | Very frequent [Orphanet] | 98 / 7739 | |||
|
|
(HPO:0003196) | Short nose | Very frequent [Orphanet] | 264 / 7739 | |||
|
|
(HPO:0001539) | Omphalocele | Very frequent [Orphanet] | 102 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|