Isotretinoin syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Retinoids embryopathy Isotretinoin embryopathy Retinoic acid embryopathy |
| Number of Symptoms | 11 |
| OrphanetNr: | 2305 |
| OMIM Id: |
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| ICD-10: |
Q86.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [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:0005280) | Depressed nasal bridge | Frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000341) | Narrow forehead | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0008772) | Aplasia/Hypoplasia of the external ear | Very frequent [Orphanet] | 67 / 7739 | |||
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(HPO:0001315) | Reduced tendon reflexes | Very frequent [Orphanet] | 160 / 7739 | |||
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(HPO:0003298) | Spina bifida occulta | Occasional [Orphanet] | 67 / 7739 | |||
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(HPO:0010769) | Pilonidal sinus | Occasional [Orphanet] | 35 / 7739 | |||
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(HPO:0001800) | Hypoplastic toenails | Frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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