Parietal foramina with cleidocranial dysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PFMCCD CLEIDOCRANIAL DYSPLASIA WITH PARIETAL FORAMINA Parietal foramina with cleidocranial dysostosis |
| Number of Symptoms | 6 |
| OrphanetNr: | 251290 |
| OMIM Id: |
168550
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| ICD-10: |
Q74.0 |
| 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: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
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 |
Symptom Information:
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(HPO:0004492) | Widely patent fontanelles and sutures | 11 / 7739 | ||||
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(HPO:0002697) | Parietal foramina | 12 / 7739 | ||||
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(HPO:0010537) | Wide cranial sutures | 21 / 7739 | ||||
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(HPO:0002695) | Symmetrical, oval parietal bone defects | 5 / 7739 | ||||
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(HPO:0000894) | Short clavicles | 30 / 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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Additional Information:
| Clinical Description OMIM |
Eckstein and Hoare (1963) reported mother and son with parietal foramina and clavicular hypoplasia. Golabi et al. (1983) reported a second family with 3 generations affected including male-to-male transmission. Garcia-Minaur et al. (2003) described a 3-generation ... |
| Molecular genetics OMIM |
In a 3-generation family segregating parietal foramina with cleidocranial dysplasia, Garcia-Minaur et al. (2003) identified heterozygosity for a frameshift mutation in the homeodomain of the MSX2 gene predicting a termination codon 75 triplets downstream (123101.0007). The authors concluded ... |