Craniometaphyseal dysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CMD |
| Number of Symptoms | 28 |
| OrphanetNr: | 1522 |
| OMIM Id: |
123000
218400 |
| ICD-10: |
Q78.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
36601008 |
Prevalence, inheritance and age of onset:
| Prevalence: | 70 cases [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary bone dysplasia with increased bone density
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0002694) | Sclerosis of skull base | 10 / 7739 | ||||
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(HPO:0000303) | Mandibular prognathia | 179 / 7739 | ||||
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(HPO:0001742) | Nasal obstruction | 5 / 7739 | ||||
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(HPO:0000431) | Wide nasal bridge | Very frequent [Orphanet] | 290 / 7739 | |||
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(HPO:0000692) | Misalignment of teeth | 18 / 7739 | ||||
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(HPO:0010628) | Facial palsy | Occasional [Orphanet] | 146 / 7739 | |||
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(HPO:0004437) | Cranial hyperostosis | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0000506) | Telecanthus | Frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000256) | Macrocephaly | 298 / 7739 | ||||
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(HPO:0001739) | Abnormality of the nasopharynx | 16 / 7739 | ||||
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(HPO:0004407) | Bony paranasal bossing | 3 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
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(HPO:0000410) | Mixed hearing impairment | 22 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | Occasional [Orphanet] | 524 / 7739 | |||
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(HPO:0000405) | Conductive hearing impairment | Occasional [Orphanet] | 164 / 7739 | |||
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(HPO:0001291) | Abnormality of the cranial nerves | Occasional [Orphanet] | 27 / 7739 | |||
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(HPO:0002652) | Skeletal dysplasia | Frequent [Orphanet] | 113 / 7739 | |||
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(HPO:0000944) | Abnormality of the metaphyses | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0006384) | Club-shaped distal femur | 3 / 7739 | ||||
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(HPO:0011001) | Increased bone mineral density | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0004975) | Erlenmeyer flask deformity of the femurs | 8 / 7739 | ||||
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(HPO:0000925) | Abnormality of the vertebral column | 20 / 7739 | ||||
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(HPO:0005450) | Calvarial osteosclerosis | 2 / 7739 | ||||
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(HPO:0003016) | Metaphyseal widening | 41 / 7739 | ||||
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(HPO:0002644) | Abnormality of pelvic girdle bone morphology | 31 / 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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