Craniofacial conodysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 4 |
| OrphanetNr: | 85168 |
| OMIM Id: |
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| ICD-10: |
Q87.5 |
| 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: | 1 family [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
No data available [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Acromelic dysplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000929) | Abnormality of the skull | Very frequent [Orphanet] | 53 / 7739 | |||
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(HPO:0000271) | Abnormality of the face | Very frequent [Orphanet] | 108 / 7739 | |||
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(HPO:0012639) | Abnormality of nervous system morphology | Very frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0001155) | Abnormality of the hand | Very frequent [Orphanet] | 54 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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