Delayed membranous cranial ossification
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Gonzales-del Angel syndrome |
| Number of Symptoms | 10 |
| OrphanetNr: | 3034 |
| OMIM Id: |
155980
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| ICD-10: |
Q75.8 |
| 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: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Cleidocranial dysplasia and isolated cranial ossification defect
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Cranial malformation -Rare developmental defect during embryogenesis Genetic cranial malformation -Rare genetic disease |
Symptom Information:
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(HPO:0000582) | Upslanted palpebral fissure | Very frequent [Orphanet] | 185 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | 328 / 7739 | ||||
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(HPO:0000269) | Prominent occiput | Frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | 381 / 7739 | ||||
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(HPO:0004331) | Decreased skull ossification | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0011800) | Midface retrusion | Very frequent [Orphanet] | 221 / 7739 | |||
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(HPO:0000457) | Depressed nasal ridge | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000369) | Low-set ears | 372 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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