Fetal hydantoin syndrome
Synonyms: Fetal dihydantoin syndrome · Phenytoin embryofetopathy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fetal hydantoin syndrome | Fetal dihydantoin syndrome · Phenytoin embryofetopathy |
| fr | Embryofoetopathie à la phénylhydantoïne | Embryofoetopathie à la diphénylhydantoïne · Exposition anténatale à la diphénylhydantoïne |
| de | Dihydantoin-Embryopathie | Hydantoin-Embryopathie · Phenytoin-Embryopathie |
| es | Síndrome fetal por hidantoína | Embriofetopatía por fenitoina · Síndrome fetal por dihidantoína |
| it | Sindrome fetale da idantoina | Embriofetopatia da fentoina · Sindrome fetale da diidantoina |
| nl | Foetaal hydantoïnesyndroom | Fenytoïne embryofoetopathie · Foetaal dihydantoïnesyndroom |
| pt | Síndrome de hidantoína fetal | Embriofetopatia por fenitoína |
| pl | Płodowy zespół hydantoinowy | Embriofetopatia hydantoinowa |
| cs | Fetální hydantoinový syndrom | Fenytoinová embryopatie |
| uk | Фетальний гідантоїновий синдром | Фетальний дигідантоїновий синдром · Фенітоінова ембріофетопатія |
| zh | 胎儿乙内酰脲综合征 | 胎儿双乙内酰脲综合征 |
| tr | Fetal hidantoin sendromu | Fenitoin embriyofetopati · fetal dihidantoin sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q86.1 | E | specific | validated |
| ICD-11 | LA07.1 | E | specific | validated |
| MONDO | 0016008 | E | validated | |
| MeSH | C537922 | E | validated | |
| UMLS | C0265372 | E | validated | |
| GARD | 6435 | E | validated | |
| MedDRA | 10016508 | 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 (2):
- ORPHA:370068Fetal anticonvulsant syndrome
rare developmental anomalies during embryogenesis; rare disorders due to toxic effects; rare teratologic disorders - ORPHA:138059Teratogenic Pierre Robin syndrome
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000364 | Hearing abnormality | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0003196 | Short nose | |
| Frequent (79-30%) | ||
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | |
| HP:0000048 | Bifid scrotum | |
| HP:0002208 | Coarse hair | |
| HP:0000286 | Epicanthus | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0001263 | Global developmental delay | |
| HP:0100790 | Hernia | |
| HP:0000316 | Hypertelorism | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002162 | Low posterior hairline | |
| HP:0000252 | Microcephaly | |
| HP:0000508 | Ptosis | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0000474 | Thickened nuchal skin fold | |
| HP:0001199 | Triphalangeal thumb | |
| HP:0006610 | Wide intermamillary distance | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0002664 | Neoplasm | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1912
- This record as JSON: /data/d/1912.json