Fetal trimethadione syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 25 |
| OrphanetNr: | 1913 |
| OMIM Id: |
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| ICD-10: |
Q86.8 |
| UMLs: |
C0265373 |
| MeSH: |
C537798 |
| MedDRA: |
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| Snomed: |
66351003 |
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:
|
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(HPO:0000062) | Ambiguous genitalia | Frequent [Orphanet] | 74 / 7739 | |||
|
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(HPO:0000047) | Hypospadias | Frequent [Orphanet] | 250 / 7739 | |||
|
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(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
|
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(HPO:0011800) | Midface retrusion | Very frequent [Orphanet] | 221 / 7739 | |||
|
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
|
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(HPO:0000664) | Synophrys | Very frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0000248) | Brachycephaly | Very frequent [Orphanet] | 222 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
|
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
|
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(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0003196) | Short nose | Very frequent [Orphanet] | 264 / 7739 | |||
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(HPO:0000286) | Epicanthus | Very frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000486) | Strabismus | Frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0000508) | Ptosis | Frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
|
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(HPO:0011039) | Abnormality of the helix | Very frequent [Orphanet] | 33 / 7739 | |||
|
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(HPO:0008544) | Abnormally folded helix | Very frequent [Orphanet] | 24 / 7739 | |||
|
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(HPO:0000954) | Single transverse palmar crease | Frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0001669) | Transposition of the great arteries | Occasional [Orphanet] | 36 / 7739 | |||
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(HPO:0001629) | Ventricular septal defect | Frequent [Orphanet] | 316 / 7739 | |||
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(HPO:0001631) | Atria septal defect | Frequent [Orphanet] | 274 / 7739 | |||
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(HPO:0001636) | Tetralogy of Fallot | Frequent [Orphanet] | 104 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|