Craniosynostosis - intracranial calcifications
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Longman-Tolmie syndrome |
| Number of Symptoms | 11 |
| OrphanetNr: | 52054 |
| OMIM Id: |
608432
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| ICD-10: |
Q87.0 |
| 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: | 3 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic craniosynostosis
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0001999) | Abnormal facial shape | 169 / 7739 | ||||
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(HPO:0000426) | Prominent nasal bridge | 121 / 7739 | ||||
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(HPO:0001363) | Craniosynostosis | 132 / 7739 | ||||
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(HPO:0000520) | Proptosis | 192 / 7739 | ||||
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(HPO:0000336) | Prominent supraorbital ridges | 45 / 7739 | ||||
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(HPO:0000327) | Hypoplasia of the maxilla | 129 / 7739 | ||||
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0002135) | Basal ganglia calcification | 37 / 7739 | ||||
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(OMIM) | Mild proptosis | 2 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Normal intelligence | 81 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Longman et al. (2003) reported 3 sibs, offspring of phenotypically normal first-cousin Pakistani parents, who were variably affected by craniosynostosis, calcification of the basal ganglia, and mild facial dysmorphism comprising prominent eyes and a prominent nasal bridge. The ... |