Isolated scaphocephaly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Non-syndromic sagittal synostosis Isolated dolichocephaly |
| Number of Symptoms | 8 |
| OrphanetNr: | 35093 |
| OMIM Id: |
123100
600775 615529 |
| ICD-10: |
Q75.0 |
| 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: | 20 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Craniostenosis associated with a strabismus
-Rare eye disease -Rare genetic disease Isolated craniosynostosis -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000262) | Turricephaly | 38 / 7739 | ||||
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(HPO:0000269) | Prominent occiput | Occasional [Orphanet] | 43 / 7739 | |||
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(HPO:0001363) | Craniosynostosis | 132 / 7739 | ||||
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(HPO:0000263) | Oxycephaly | 10 / 7739 | ||||
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(HPO:0000268) | Dolichocephaly | Very frequent [Orphanet] | 144 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Occasional [Orphanet] | 366 / 7739 | |||
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(HPO:0002516) | Increased intracranial pressure | Occasional [Orphanet] | 47 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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