Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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8
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OrphanetNr:
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1321
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OMIM Id:
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ICD-10:
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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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3
cases
[Orphanet]
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Inheritance:
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Autosomal recessive
[Orphanet]
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Age of onset:
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Neonatal
[Orphanet]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000445)
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Wide nose |
Very frequent [Orphanet]
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190 / 7739
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2
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(HPO:0000280)
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Coarse facial features |
Very frequent [Orphanet]
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189 / 7739
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3
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(HPO:0000298)
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Mask-like facies |
Very frequent [Orphanet]
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44 / 7739
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4
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(HPO:0011302)
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Long palm |
Very frequent [Orphanet]
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70 / 7739
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5
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(HPO:0100490)
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Camptodactyly of finger |
Very frequent [Orphanet]
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212 / 7739
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6
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(HPO:0002650)
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Scoliosis |
Very frequent [Orphanet]
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705 / 7739
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7
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(HPO:0001643)
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Patent ductus arteriosus |
Occasional [Orphanet]
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228 / 7739
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8
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |