MCID: FTL007
MIFTS: 32

Fetal Hydantoin Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Fetal Hydantoin Syndrome

MalaCards integrated aliases for Fetal Hydantoin Syndrome:

Name: Fetal Hydantoin Syndrome 20 58 54 70 32
Fetal Dihydantoin Syndrome 58
Phenytoin Embryofetopathy 58
Phenytoin Embryopathy 20
Dilantin Embryopathy 20

Characteristics:

Orphanet epidemiological data:

58
fetal hydantoin syndrome
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis
Teratologic disorders


External Ids:

ICD10 32 Q86.1
MESH via Orphanet 45 C537922
ICD10 via Orphanet 33 Q86.1
UMLS via Orphanet 71 C0265372
Orphanet 58 ORPHA1912
UMLS 70 C0265372

Summaries for Fetal Hydantoin Syndrome

GARD : 20 Fetal hydantoin syndrome is a disorder that is caused by exposure of a fetus to phenytoin, a drug commonly prescribed for epilepsy. Not all infants exposed to phenytoin will be affected with the disorder. Symptoms in affected individuals may include abnormalities of the skull and facial features, growth deficiencies, underdeveloped nails of the fingers and toes, and/or mild developmental delays. Other findings occasionally associated with this syndrome include cleft lip and palate, having an abnormally small head ( microcephaly ) and brain malformations with more significant developmental delays. Treatment may include surgery for cleft lip and palate and special education and related services for children with learning delays. Other treatment is symptomatic and supportive.

MalaCards based summary : Fetal Hydantoin Syndrome, also known as fetal dihydantoin syndrome, is related to phenytoin toxicity and neuroblastoma. An important gene associated with Fetal Hydantoin Syndrome is EPHX2 (Epoxide Hydrolase 2), and among its related pathways/superpathways are Cytochrome P450 - arranged by substrate type and Naphthalene metabolism. Affiliated tissues include skin, and related phenotypes are short nose and hearing abnormality

Wikipedia : 73 Fetal hydantoin syndrome, also called fetal dilantin syndrome, is a group of defects caused to the... more...

Related Diseases for Fetal Hydantoin Syndrome

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 phenytoin toxicity 10.3
2 neuroblastoma 10.3
3 cleft palate, isolated 10.2
4 coffin-siris syndrome 1 10.1
5 hypertelorism 10.1
6 neural tube defects 10.1
7 strabismus 10.1
8 ptosis 10.1
9 inguinal hernia 10.1
10 microcephaly 10.1
11 heart septal defect 10.1
12 hemorrhagic disease 10.1
13 cleft lip 10.1
14 mechanical strabismus 10.1
15 seizure disorder 10.1
16 epidermoid cysts 10.0
17 polydactyly 10.0
18 transposition of the great arteries, dextro-looped 1 10.0
19 dextro-looped transposition of the great arteries 10.0
20 hypospadias 10.0
21 persistent fetal circulation syndrome 10.0
22 geographic tongue 10.0
23 lymphangioma 10.0
24 ventricular septal defect 10.0
25 melanotic neuroectodermal tumor 10.0
26 atrial heart septal defect 10.0
27 thrombocytosis 10.0
28 cystic lymphangioma 10.0
29 heart valve disease 10.0
30 acne 10.0
31 dextrocardia 10.0
32 abdominal cystic lymphangioma 10.0
33 neural crest tumor 10.0
34 cleft lip/palate 10.0
35 rare lymphatic malformation 10.0
36 acheiria 10.0

Graphical network of the top 20 diseases related to Fetal Hydantoin Syndrome:



Diseases related to Fetal Hydantoin Syndrome

Symptoms & Phenotypes for Fetal Hydantoin Syndrome

Human phenotypes related to Fetal Hydantoin Syndrome:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
2 hearing abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000364
3 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
4 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
5 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
6 abnormality of the pinna 58 31 hallmark (90%) Very frequent (99-80%) HP:0000377
7 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
8 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
9 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
10 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
11 coarse hair 58 31 frequent (33%) Frequent (79-30%) HP:0002208
12 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
13 hernia 58 31 frequent (33%) Frequent (79-30%) HP:0100790
14 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
15 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
16 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
17 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
18 thickened nuchal skin fold 58 31 frequent (33%) Frequent (79-30%) HP:0000474
19 low posterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0002162
20 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
21 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
22 abnormality of the fontanelles or cranial sutures 58 31 frequent (33%) Frequent (79-30%) HP:0000235
23 bifid scrotum 58 31 frequent (33%) Frequent (79-30%) HP:0000048
24 short distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009882
25 triphalangeal thumb 58 31 frequent (33%) Frequent (79-30%) HP:0001199
26 hypoplastic fingernail 58 31 frequent (33%) Frequent (79-30%) HP:0001804
27 abnormality of the cardiovascular system 58 31 occasional (7.5%) Occasional (29-5%) HP:0001626
28 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
29 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
30 neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002664

Drugs & Therapeutics for Fetal Hydantoin Syndrome

Search Clinical Trials , NIH Clinical Center for Fetal Hydantoin Syndrome

Genetic Tests for Fetal Hydantoin Syndrome

Anatomical Context for Fetal Hydantoin Syndrome

MalaCards organs/tissues related to Fetal Hydantoin Syndrome:

40
Skin

Publications for Fetal Hydantoin Syndrome

Articles related to Fetal Hydantoin Syndrome:

(show top 50) (show all 117)
# Title Authors PMID Year
1
Kids are different: developmental variability in toxicology. 54 61
8711731 1996
2
Anticonvulsants and Chromatin-Genes Expression: A Systems Biology Investigation. 61
33328862 2020
3
Fetal hypoxia and hyperglycemia in the formation of phenytoin-induced cleft lip and maxillary hypoplasia. 61
31440725 2019
4
Fetal Hydantoin Syndrome. 61
28578158 2017
5
Is Neurofibromatosis Type 1-Noonan Syndrome a Phenotypic Result of Combined Genetic and Epigenetic Factors? 61
27107091 2016
6
Fetal hydantoin syndrome: A case report. 61
26838156 2016
7
Fetal hydantoin syndrome and its anaesthetic implications: a case report. 61
23082254 2012
8
Chronic developmental exposure to phenytoin has long-term behavioral consequences. 61
18455350 2008
9
Neuroendocrine changes in adult female rats prenatally exposed to phenytoin. 61
15939211 2005
10
Impact of phenytoin therapy on the skin and skin disease. 61
15500423 2004
11
Epilepsy and pregnancy. 61
15610193 2004
12
Phenytoin in cutaneous medicine: its uses, mechanisms and side effects. 61
12952753 2003
13
Truncus arteriosus in fetal hydantoin syndrome - a new association? 61
12554926 2003
14
Evidence for Ras-dependent signal transduction in phenytoin teratogenicity. 61
12460742 2002
15
Fetal hydantoin syndrome with unilateral atypical cleft hand: additional evidence for vascular disruption. 61
12150216 2002
16
Transposition of the great arteries and hypocalcemia in a patient with fetal hydantoin syndrome. 61
11840251 2002
17
[Phenytoin influence on human metanephros]. 61
12092225 2001
18
Difficulties in the study of adverse fetal and neonatal effects of drug therapy during pregnancy. 61
11453616 2001
19
[Fetal hydantoin syndrome]. 61
11462633 2001
20
Pharmacokinetic data support pharmacologically induced embryonic dysrhythmia as explanation to Fetal Hydantoin Syndrome in rats. 61
10698674 2000
21
Fetal hydantoin syndrome with rheumatic valvular heart disease. 61
10798072 1999
22
Retro-peritoneal cystic lymphangioma in association with fetal hydantoin syndrome. 61
10798073 1999
23
Phenytoin-induced alterations in craniofacial gene expression. 61
9988880 1999
24
Two siblings with fetal hydantoin syndrome. 61
9677735 1998
25
Fetal hydantoin syndrome: an unusual cause of hip dysplasia. 61
9507275 1998
26
Polydactyly and fetal hydantoin syndrome: an additional component of the syndrome? 61
9212184 1997
27
Phenytoin-mediated oxidative stress in serum of female epileptics: a possible pathogenesis in the fetal hydantoin syndrome. 61
9088972 1997
28
Lymphoblastic lymphoma following prenatal exposure to phenytoin. 61
8846150 1996
29
Hand anomalies in fetal-hydantoin syndrome: from nail/phalangeal hypoplasia to unilateral acheiria. 61
8723073 1996
30
Phenytoin embryopathy: effect of epoxide hydrolase inhibitor on phenytoin exposure in utero in C57BL/6J mice. 61
8825076 1995
31
Induction of microsomal epoxide hydrolase activity in inbred mice by chronic phenytoin exposure. 61
8825077 1995
32
Phenytoin covalent binding and embryopathy in mouse embryos co-cultured with maternal hepatocytes from mouse, rat, and rabbit. 61
8615862 1995
33
Biochemical and molecular teratology of fetal hydantoin syndrome. 61
7845340 1994
34
Prenatal prediction of risk of the fetal hydantoin syndrome. 61
8232451 1993
35
Neuroblastoma and fetal exposure to phenytoin in a child without dysmorphic features. 61
1623454 1992
36
Clinical and experimental studies linking oxidative metabolism to phenytoin-induced teratogenesis. 61
1574173 1992
37
Thrombocytosis and hyposplenism in an infant with fetal hydantoin syndrome. 61
1550265 1992
38
The fetal hydantoin syndrome. 61
1842240 1991
39
Developmental neurotoxicity of anticonvulsants: human and animal evidence on phenytoin. 61
2196420 1990
40
Prenatal prediction of risk of the fetal hydantoin syndrome. 61
2336087 1990
41
Syndromology: an updated conceptual overview. VII. Aspects of teratogenesis. 61
2110956 1990
42
Neuroblastoma after prenatal exposure to phenytoin: cause and effect? 61
2672404 1989
43
Enhancement of murine phenytoin teratogenicity by the gamma-glutamylcysteine synthetase inhibitor L-buthionine-(S,R)-sulfoximine and by the glutathione depletor diethyl maleate. 61
2772848 1989
44
Modulation of embryonic glutathione reductase and phenytoin teratogenicity by 1,3-bis(2-chloroethyl)-1-nitrosourea (BCNU). 61
2746506 1989
45
Pattern of malformations in the children of women treated with carbamazepine during pregnancy. 61
2725616 1989
46
Fetal hydantoin syndrome: a case report. 61
2501774 1989
47
Fetal hydantoin syndrome? 61
2704664 1989
48
[The fetal hydantoin syndrome]. 61
2564221 1989
49
The fetal hydantoin syndrome: answers from a mouse model. 61
2520510 1989
50
Genetics and fetal hydantoin syndrome. 61
2493186 1989

Variations for Fetal Hydantoin Syndrome

Expression for Fetal Hydantoin Syndrome

Search GEO for disease gene expression data for Fetal Hydantoin Syndrome.

Pathways for Fetal Hydantoin Syndrome

GO Terms for Fetal Hydantoin Syndrome

Biological processes related to Fetal Hydantoin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to toxic substance GO:0009636 9.16 EPHX2 EPHX1
2 aromatic compound catabolic process GO:0019439 8.96 EPHX2 EPHX1
3 epoxide metabolic process GO:0097176 8.62 EPHX2 EPHX1

Molecular functions related to Fetal Hydantoin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 8.96 EPHX2 EPHX1
2 epoxide hydrolase activity GO:0004301 8.62 EPHX2 EPHX1

Sources for Fetal Hydantoin Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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