Isolated oxycephaly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CRANIOSTENOSIS CRS1 CRS Turricephaly Non-syndromic oxycephaly |
| Number of Symptoms | 9 |
| OrphanetNr: | 63440 |
| OMIM Id: |
123100
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| 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: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Childhood [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:0000263) | Oxycephaly | 10 / 7739 | ||||
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(HPO:0000268) | Dolichocephaly | 144 / 7739 | ||||
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(HPO:0000262) | Turricephaly | Very frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0002516) | Increased intracranial pressure | Frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Normal intelligence | 81 / 7739 | ||||
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(OMIM) | Beaten copper appearance of skull | 1 / 7739 | ||||
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(HPO:0002308) | Arnold-Chiari malformation | Frequent [Orphanet] | 42 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some ... |
| Clinical Description OMIM |
Gordon (1959) found multiple cases in 5 of 9 South African families studied in detail. In 4 families, multiple sibs were involved. In the fifth, the mother of an affected child was also affected. Bell et ... |
| Molecular genetics OMIM |
Seto et al. (2007) performed mutation analysis in 164 infants with isolated single-suture craniosynostosis and identified novel heterozygous missense mutations in the TWIST1 gene in 2 patients, 1 with coronal (601622.0013) and 1 with sagittal (601622.0014) synostosis. Neither ... |
| Population genetics OMIM | Fitzpatrick (2013) stated that craniosynostosis affects 1 in 2,200 individuals. |