Spondylocamptodactyly syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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CAMPTODACTYLY WITH CERVICAL PLATYSPONDYLY
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Number of Symptoms
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5
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OrphanetNr:
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3180
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OMIM Id:
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600000
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ICD-10:
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Q77.8
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UMLs:
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C1838781
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MeSH:
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C535779
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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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No data available.
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Inheritance:
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Autosomal dominant inheritance
[Omim]
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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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Spondylodysplastic dysplasia
-Rare bone disease
-Rare developmental defect during embryogenesis
-Rare genetic disease
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1
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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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2
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(HPO:0000926)
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Platyspondyly |
Very frequent [Orphanet]
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150 / 7739
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3
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(HPO:0004558)
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Cervical platyspondyly |
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3 / 7739
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4
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(HPO:0002650)
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Scoliosis |
Very frequent [Orphanet]
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705 / 7739
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5
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(OMIM)
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Camptodactyly. Flexion contractures of proximal interphalangeal joints. |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |