Cerebral gigantism - jaw cysts
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Cramer-Niederdellmann syndrome
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Number of Symptoms
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7
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OrphanetNr:
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2081
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OMIM Id:
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ICD-10:
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Q04.5
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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:
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Prevalence:
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<
10
cases
[Orphanet]
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Inheritance:
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Unknown
[Orphanet]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Other syndrome with a central nervous system malformation as major feature
-Rare developmental defect during embryogenesis
-Rare neurologic disease
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1
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(HPO:0000256)
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Macrocephaly |
Very frequent [Orphanet]
|
|
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298 / 7739
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2
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(HPO:0002066)
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Gait ataxia |
Frequent [Orphanet]
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327 / 7739
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3
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(HPO:0002353)
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EEG abnormality |
Very frequent [Orphanet]
|
|
|
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188 / 7739
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4
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(HPO:0005616)
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Accelerated skeletal maturation |
Very frequent [Orphanet]
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46 / 7739
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5
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(HPO:0002514)
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Cerebral calcification |
Very frequent [Orphanet]
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89 / 7739
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6
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(HPO:0012062)
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Bone cyst |
Very frequent [Orphanet]
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19 / 7739
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7
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(HPO:0000098)
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Tall stature |
Very frequent [Orphanet]
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74 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |