Isolated trigonocephaly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Non-syndromic metopic craniosynostosis |
| Number of Symptoms | 13 |
| OrphanetNr: | 3366 |
| OMIM Id: |
190440
614485 |
| 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: | 6.7 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:0000040) | Long penis | 17 / 7739 | ||||
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(HPO:0000664) | Synophrys | Frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0000336) | Prominent supraorbital ridges | Frequent [Orphanet] | 45 / 7739 | |||
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(HPO:0000601) | Hypotelorism | Frequent [Orphanet] | 83 / 7739 | |||
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000243) | Trigonocephaly | Very frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0001363) | Craniosynostosis | 132 / 7739 | ||||
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(HPO:0000431) | Wide nasal bridge | Frequent [Orphanet] | 290 / 7739 | |||
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(HPO:0000384) | Preauricular skin tag | 62 / 7739 | ||||
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(HPO:0008439) | Lumbar hemivertebrae | 2 / 7739 | ||||
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(HPO:0002245) | Meckel diverticulum | 12 / 7739 | ||||
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(HPO:0001539) | Omphalocele | Occasional [Orphanet] | 102 / 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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