MCID: FTL030
MIFTS: 23

Fetal Valproate Syndrome malady

Rare diseases, Fetal diseases categories

Aliases & Classifications for Fetal Valproate Syndrome

About this section
Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Fetal Valproate Syndrome:

Name: Fetal Valproate Syndrome 45 51 65
Embryofoetal Valproic Acid Syndrome 45
Valproic Acid Fetal Effects from 45
 
Fetal Valproic Acid Syndrome 51
Valproic Acid Embryopathy 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
fetal valproate syndrome:
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal


External Ids:

Orphanet51 1906
ICD10 via Orphanet28 Q86.8
MESH via Orphanet37 C536525
UMLS via Orphanet66 C0236026

Summaries for Fetal Valproate Syndrome

About this section
NIH Rare Diseases:45 Fetal valproate syndrome occurs when a baby develops signs and symptoms as a result of an exposure to valproic acid during fetal development.  fetal exposure to valproic acid is associated with 2 to 3 times the general population risk for birth defects.  this results in roughly a 6 to 9% risk of having a child with a birth defect versus the general population risk of 2 to 3%.  some children with this syndrome share common subtle facial characteristics, including thin arched eyebrows that may be spaced far apart, a wide nasal bridge, short nose with anteverted nostrils, thin upper lip, and smooth long philtrum (space between nose and lip). these features may become less prominent with time. fetal valproate syndrome may also be associated with a wide range of other birth defects, as well as intellectual disability. in most cases the risks for a particular symptom or defect is not currently known. last updated: 3/5/2010

MalaCards based summary: Fetal Valproate Syndrome, also known as embryofoetal valproic acid syndrome, is related to polydactyly and coloboma, and has symptoms including narrow mouth, thin vermilion border and epicanthus. Affiliated tissues include kidney and eye.

Related Diseases for Fetal Valproate Syndrome

About this section

Diseases related to Fetal Valproate Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1polydactyly10.1
2coloboma10.1
3patent ductus arteriosus10.1
4multicystic dysplastic kidney10.1

Symptoms for Fetal Valproate Syndrome

About this section

Symptoms:

 51 (show all 9)
  • epicanthic folds
  • short/small nose
  • flattened nose
  • microstomia/little mouth
  • thin/retracted lips
  • downturned mouth
  • long philtrum
  • omphalocele/exomphalos
  • antenatal exposure : anticonvulsants

HPO human phenotypes related to Fetal Valproate Syndrome:

(show all 8)
id Description Frequency HPO Source Accession
1 narrow mouth hallmark (90%) HP:0000160
2 thin vermilion border hallmark (90%) HP:0000233
3 epicanthus hallmark (90%) HP:0000286
4 long philtrum hallmark (90%) HP:0000343
5 depressed nasal ridge hallmark (90%) HP:0000457
6 omphalocele hallmark (90%) HP:0001539
7 downturned corners of mouth hallmark (90%) HP:0002714
8 short nose hallmark (90%) HP:0003196

Drugs & Therapeutics for Fetal Valproate Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fetal Valproate Syndrome

Genetic Tests for Fetal Valproate Syndrome

About this section

Anatomical Context for Fetal Valproate Syndrome

About this section

MalaCards organs/tissues related to Fetal Valproate Syndrome:

33
Kidney, Eye

Animal Models for Fetal Valproate Syndrome or affiliated genes

About this section

Publications for Fetal Valproate Syndrome

About this section

Articles related to Fetal Valproate Syndrome:

(show all 31)
idTitleAuthorsYear
1
Research of the rat's behavior using fetal valproate syndrome model. (26531578)
2015
2
Fetal valproate syndrome. (25400349)
2014
3
Valproic acid silencing of ascl1b/Ascl1 results in the failure of serotonergic differentiation in a zebrafish model of fetal valproate syndrome. (24135485)
2014
4
Is coloboma a feature of fetal valproate syndrome? (24263622)
2014
5
Difficult airway in an infant with fetal valproate syndrome. (24292219)
2013
6
An anomalous left superior venacava draining into left atrium in association with fetal valproate syndrome. (22678520)
2013
7
Epigenetic changes and disturbed neural development in a human embryonic stem cell-based model relating to the fetal valproate syndrome. (22723015)
2012
8
Severe fetal valproate syndrome: combination of complex cardiac defect, multicystic dysplastic kidney, and trigonocephaly. (21291342)
2011
9
Fetal valproate syndrome in a 2-month-old male infant. (20427941)
2010
10
A case of fetal valproate syndrome with new features expanding the phenotype. (19198722)
2009
11
A case of fetal valproate syndrome with new features expanding the phenotype. (19618023)
2009
12
Early intervention for the ocular and neurodevelopmental sequelae of Fetal Valproate Syndrome. (17688650)
2007
13
Fetal valproate syndrome. (17090909)
2006
14
Patent ductus arteriosus in fetal valproate syndrome. (14510093)
2003
15
Nuchal edema as the first sign of fetal valproate syndrome. (12224082)
2002
16
Fatal cardiac malformation in fetal valproate syndrome. (11758141)
2001
17
Reduced corneal sensation and severe dry eyes in a child with fetal valproate syndrome. (11702984)
2001
18
Fetal valproate syndrome and autism: additional evidence of an association. (11263692)
2001
19
Anomalous right pulmonary artery origins in association with the fetal valproate syndrome. (9950375)
1999
20
A child with a DIC (15p; 22p) centric fusion and fetal Valproate syndrome. (10728044)
1999
21
A male with fetal valproate syndrome and autism. (9344057)
1997
22
Fetal valproate syndrome with reduction deformity of limb. (7754767)
1995
23
Fetal valproate syndrome. (8544193)
1995
24
Fetal valproate syndrome: clinical and neuro-developmental features in two sibling pairs. (7512516)
1994
25
Preaxial polydactyly in the fetal valproate syndrome. (1473550)
1992
26
The fetal valproate syndrome. (1925511)
1991
27
Verification of the fetal valproate syndrome phenotype. (3125743)
1988
28
The fetal valproate syndrome. (3148280)
1988
29
Fetal valproate syndrome: is there a recognisable phenotype? (3123693)
1987
30
Fetal valproate syndrome. (3087169)
1986
31
The fetal valproate syndrome. (6439041)
1984

Variations for Fetal Valproate Syndrome

About this section

Expression for genes affiliated with Fetal Valproate Syndrome

About this section
Search GEO for disease gene expression data for Fetal Valproate Syndrome.

Pathways for genes affiliated with Fetal Valproate Syndrome

About this section

GO Terms for genes affiliated with Fetal Valproate Syndrome

About this section

Sources for Fetal Valproate Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet