Craniorhiny
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 10 |
| OrphanetNr: | 157832 |
| OMIM Id: |
123050
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| ICD-10: |
Q30.8 |
| 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: | 3 families [Orphanet] |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nose and cavum anomaly
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000463) | Anteverted nares | 305 / 7739 | ||||
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(HPO:0000263) | Oxycephaly | 10 / 7739 | ||||
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(HPO:0001363) | Craniosynostosis | 132 / 7739 | ||||
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(HPO:0000445) | Wide nose | 190 / 7739 | ||||
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(HPO:0000262) | Turricephaly | 38 / 7739 | ||||
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(OMIM) | Lack of nasofrontal angle | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Recessed forehead | 2 / 7739 | ||||
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(OMIM) | Nasal hirsutism | 1 / 7739 | ||||
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(OMIM) | Infranasal spherical cyst-like formations with fistulas | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Mindikoglu et al. (1991) published pictures of an extraordinary combination of craniosynostosis and unusual nasal abnormalities. The skull shape was oxycephalic with recessed forehead and lack of nasofrontal angle. The nasal changes consisted of wide nose, anteverted nostrils, ... |