TRIGONOCEPHALY 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
TRIGNO2 CRANIOSYNOSTOSIS, METOPIC |
| Number of Symptoms | 6 |
| OrphanetNr: | |
| OMIM Id: |
614485
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| ICD-10: |
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| 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: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0011330) | Metopic synostosis | 3 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | rare [HPO:skoehler] | 644 / 7739 | |||
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(HPO:0000252) | Microcephaly | rare [HPO:skoehler] | 832 / 7739 | |||
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(HPO:0000243) | Trigonocephaly | 40 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Metopic craniosynostosis | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1:68,000 live births (summary by Vissers et al., 2011). For a discussion of genetic heterogeneity of isolated trigonocephaly, see TRIGNO1 ... |
| Molecular genetics OMIM |
Vissers et al. (2011) analyzed the FREM1 gene in 104 patients with nonsyndromic metopic craniosynostosis and identified heterozygous missense mutations in 3 patients (608944.0008 and 608944.0009) that were not found in control chromosomes. Incomplete penetrance was demonstrated in ... |