Isolated brachycephaly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Non-syndromic bicornal synostosis |
| Number of Symptoms | 11 |
| OrphanetNr: | 35099 |
| OMIM Id: |
123100
615314 |
| 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: | 5 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:0000337) | Broad forehead | Very frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0011800) | Midface retrusion | Occasional [Orphanet] | 221 / 7739 | |||
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(HPO:0000520) | Proptosis | Frequent [Orphanet] | 192 / 7739 | |||
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(HPO:0000248) | Brachycephaly | Very frequent [Orphanet] | 222 / 7739 | |||
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(HPO:0009891) | Underdeveloped supraorbital ridges | Frequent [Orphanet] | 36 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Occasional [Orphanet] | 644 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0002516) | Increased intracranial pressure | Frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0001163) | Abnormality of the metacarpal bones | Occasional [Orphanet] | 149 / 7739 | |||
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(HPO:0004279) | Short palm | Occasional [Orphanet] | 323 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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