Craniodiaphyseal dysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 34 |
| OrphanetNr: | 1513 |
| OMIM Id: |
122860
218300 |
| ICD-10: |
M85.2 |
| UMLs: |
C0410539 |
| MeSH: |
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| MedDRA: |
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| Snomed: |
205506004 |
Prevalence, inheritance and age of onset:
| Prevalence: | < 20 cases [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Cranial malformation
-Rare developmental defect during embryogenesis Genetic cranial malformation -Rare genetic disease 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:0011120) | Concave nasal ridge | 9 / 7739 | ||||
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(HPO:0004493) | Craniofacial hyperostosis | 5 / 7739 | ||||
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(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
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(HPO:0001349) | Facial diplegia | 16 / 7739 | ||||
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(HPO:0000280) | Coarse facial features | Very frequent [Orphanet] | 189 / 7739 | |||
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(HPO:0000256) | Macrocephaly | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0000445) | Wide nose | Very frequent [Orphanet] | 190 / 7739 | |||
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(HPO:0004437) | Cranial hyperostosis | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0000452) | Choanal stenosis | 23 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | 644 / 7739 | ||||
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(HPO:0001085) | Papilledema | 31 / 7739 | ||||
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(HPO:0000529) | Progressive visual loss | 54 / 7739 | ||||
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(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0000405) | Conductive hearing impairment | Frequent [Orphanet] | 164 / 7739 | |||
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(HPO:0000372) | Abnormality of the auditory canal | Frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0002516) | Increased intracranial pressure | 47 / 7739 | ||||
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(HPO:0002315) | Headache | 175 / 7739 | ||||
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(HPO:0003165) | Elevated circulating parathyroid hormone level | 17 / 7739 | ||||
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(HPO:0000940) | Abnormal diaphysis morphology | Very frequent [Orphanet] | 41 / 7739 | |||
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(HPO:0000772) | Abnormality of the ribs | Very frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0003034) | Diaphyseal sclerosis | 10 / 7739 | ||||
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(HPO:0005464) | Craniofacial osteosclerosis | 3 / 7739 | ||||
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(HPO:0000900) | Thickened ribs | 9 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0003155) | Elevated alkaline phosphatase | 52 / 7739 | ||||
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(HPO:0003676) | Progressive disorder | 148 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Occasional [Orphanet] | 187 / 7739 | |||
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(HPO:0003593) | Infantile onset | 249 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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