Fetal hydantoin syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Fetal dihydantoin syndrome Phenytoin embryofetopathy |
| Number of Symptoms | 30 |
| OrphanetNr: | 1912 |
| OMIM Id: |
|
| ICD-10: |
Q86.1 |
| UMLs: |
C0265372 |
| MeSH: |
C537922 |
| MedDRA: |
10016508 |
| Snomed: |
70065001 |
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:0000048) | Bifid scrotum | Frequent [Orphanet] | 36 / 7739 | |||
|
|
(HPO:0000035) | Abnormality of the testis | Occasional [Orphanet] | 296 / 7739 | |||
|
|
(HPO:0000457) | Depressed nasal ridge | Very frequent [Orphanet] | 85 / 7739 | |||
|
|
(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
|
|
(HPO:0000159) | Abnormality of the lip | Frequent [Orphanet] | 33 / 7739 | |||
|
|
(HPO:0005989) | Redundant neck skin | Frequent [Orphanet] | 40 / 7739 | |||
|
|
(HPO:0000154) | Wide mouth | Frequent [Orphanet] | 137 / 7739 | |||
|
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(HPO:0000286) | Epicanthus | Frequent [Orphanet] | 371 / 7739 | |||
|
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(HPO:0000239) | Large fontanelles | Frequent [Orphanet] | 135 / 7739 | |||
|
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(HPO:0003196) | Short nose | Very frequent [Orphanet] | 264 / 7739 | |||
|
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(HPO:0000316) | Hypertelorism | Frequent [Orphanet] | 644 / 7739 | |||
|
|
(HPO:0000174) | Abnormality of the palate | Occasional [Orphanet] | 298 / 7739 | |||
|
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(HPO:0002162) | Low posterior hairline | Frequent [Orphanet] | 88 / 7739 | |||
|
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(HPO:0000486) | Strabismus | Frequent [Orphanet] | 576 / 7739 | |||
|
|
(HPO:0000508) | Ptosis | Frequent [Orphanet] | 459 / 7739 | |||
|
|
(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
|
|
(HPO:0000598) | Abnormality of the ear | Very frequent [Orphanet] | 98 / 7739 | |||
|
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(HPO:0004404) | Abnormality of the nipple | Frequent [Orphanet] | 54 / 7739 | |||
|
|
(HPO:0003468) | Abnormality of the vertebrae | Frequent [Orphanet] | 77 / 7739 | |||
|
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(HPO:0004279) | Short palm | Frequent [Orphanet] | 323 / 7739 | |||
|
|
(HPO:0004299) | Hernia of the abdominal wall | Frequent [Orphanet] | 176 / 7739 | |||
|
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
|
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(HPO:0001511) | Intrauterine growth retardation | Frequent [Orphanet] | 358 / 7739 | |||
|
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(HPO:0007477) | Abnormal dermatoglyphics | Very frequent [Orphanet] | 72 / 7739 | |||
|
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(HPO:0001804) | Hypoplastic fingernail | Frequent [Orphanet] | 62 / 7739 | |||
|
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(HPO:0002208) | Coarse hair | Frequent [Orphanet] | 58 / 7739 | |||
|
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(HPO:0001626) | Abnormality of the cardiovascular system | Occasional [Orphanet] | 73 / 7739 | |||
|
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(HPO:0002664) | Neoplasm | Occasional [Orphanet] | 111 / 7739 | |||
|
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 | |||
|
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(HPO:0001199) | Triphalangeal thumb | Frequent [Orphanet] | 56 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|