Thin ribs - tubular bones - dysmorphism
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Sharma-Kapoor-Ramji syndrome
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Number of Symptoms
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9
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OrphanetNr:
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1506
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OMIM Id:
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ICD-10:
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Q87.5
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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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No data available.
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Inheritance:
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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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Slender bone dysplasia
-Rare bone disease
-Rare developmental defect during embryogenesis
-Rare genetic 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:0002705)
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High, narrow palate |
Very frequent [Orphanet]
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308 / 7739
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3
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(HPO:0002007)
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Frontal bossing |
Very frequent [Orphanet]
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366 / 7739
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4
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(HPO:0000357)
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Abnormal location of ears |
Very frequent [Orphanet]
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328 / 7739
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5
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(HPO:0011867)
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Abnormality of the wing of the ilium |
Very frequent [Orphanet]
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123 / 7739
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6
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(HPO:0000772)
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Abnormality of the ribs |
Very frequent [Orphanet]
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146 / 7739
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7
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(HPO:0003100)
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Slender long bone |
Very frequent [Orphanet]
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45 / 7739
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8
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(HPO:0001511)
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Intrauterine growth retardation |
Very frequent [Orphanet]
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358 / 7739
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9
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(HPO:0011420)
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Death |
Very frequent [Orphanet]
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184 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |