Fetal alcohol syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Alcohol antenatal infection |
| Number of Symptoms | 30 |
| OrphanetNr: | 1915 |
| OMIM Id: |
|
| ICD-10: |
Q86.0 |
| UMLs: |
C0015923 |
| MeSH: |
D005310 |
| MedDRA: |
10016845 |
| Snomed: |
205788004 |
Prevalence, inheritance and age of onset:
| Prevalence: | 1.6 of 100 000 [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Teratogenic Pierre Robin syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease Toxic or drug-related embryofetopathy -Rare developmental defect during embryogenesis |
Symptom Information:
|
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(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
|
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(HPO:0000691) | Microdontia | Frequent [Orphanet] | 104 / 7739 | |||
|
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(HPO:0000204) | Cleft upper lip | Frequent [Orphanet] | 193 / 7739 | |||
|
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(HPO:0003196) | Short nose | Frequent [Orphanet] | 264 / 7739 | |||
|
|
(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
|
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(HPO:0000341) | Narrow forehead | Frequent [Orphanet] | 96 / 7739 | |||
|
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(HPO:0000233) | Thin vermilion border | Frequent [Orphanet] | 124 / 7739 | |||
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(HPO:0000286) | Epicanthus | Frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000506) | Telecanthus | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Occasional [Orphanet] | 298 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Frequent [Orphanet] | 305 / 7739 | |||
|
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(HPO:0000275) | Narrow face | Very frequent [Orphanet] | 76 / 7739 | |||
|
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(HPO:0000288) | Abnormality of the philtrum | Frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0000508) | Ptosis | Frequent [Orphanet] | 459 / 7739 | |||
|
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Frequent [Orphanet] | 142 / 7739 | |||
|
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(HPO:0000486) | Strabismus | Frequent [Orphanet] | 576 / 7739 | |||
|
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000708) | Behavioral abnormality | Very frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Frequent [Orphanet] | 322 / 7739 | |||
|
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(HPO:0003422) | Vertebral segmentation defect | Frequent [Orphanet] | 95 / 7739 | |||
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(HPO:0000775) | Abnormality of the diaphragm | Occasional [Orphanet] | 62 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
|
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0100761) | Visceral angiomatosis | Frequent [Orphanet] | 21 / 7739 | |||
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(HPO:0007477) | Abnormal dermatoglyphics | Frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0011362) | Abnormal hair quantity | Occasional [Orphanet] | 92 / 7739 | |||
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(HPO:0001631) | Atria septal defect | Frequent [Orphanet] | 274 / 7739 | |||
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(HPO:0010978) | Abnormality of immune system physiology | Frequent [Orphanet] | 148 / 7739 | |||
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(HPO:0011420) | Death | Occasional [Orphanet] | 184 / 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 |
|---|