Dysmorphism - pectus carinatum - joint laxity
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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11
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OrphanetNr:
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2104
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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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No data available.
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Inheritance:
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Autosomal recessive 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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No data available.
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1
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(HPO:0010620)
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Malar prominence |
Very frequent [Orphanet]
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7 / 7739
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2
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(HPO:0002002)
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Deep philtrum |
Very frequent [Orphanet]
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42 / 7739
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3
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(HPO:0010804)
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Tented upper lip vermilion |
Very frequent [Orphanet]
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47 / 7739
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4
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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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5
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(HPO:0000444)
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Convex nasal ridge |
Very frequent [Orphanet]
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87 / 7739
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6
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(HPO:0000272)
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Malar flattening |
Very frequent [Orphanet]
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277 / 7739
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7
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(HPO:0000506)
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Telecanthus |
Very frequent [Orphanet]
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156 / 7739
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8
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(HPO:0000457)
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Depressed nasal ridge |
Very frequent [Orphanet]
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85 / 7739
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9
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(HPO:0000768)
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Pectus carinatum |
Very frequent [Orphanet]
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136 / 7739
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10
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(HPO:0001382)
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Joint hypermobility |
Very frequent [Orphanet]
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231 / 7739
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11
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(HPO:0002857)
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Genu valgum |
Very frequent [Orphanet]
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144 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |