Pectus excavatum - macrocephaly - dysplastic nails
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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14
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OrphanetNr:
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2835
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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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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:0002007)
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Frontal bossing |
Occasional [Orphanet]
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366 / 7739
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2
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(HPO:0000272)
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Malar flattening |
Occasional [Orphanet]
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277 / 7739
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3
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(HPO:0000337)
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Broad forehead |
Frequent [Orphanet]
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116 / 7739
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4
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(HPO:0005280)
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Depressed nasal bridge |
Occasional [Orphanet]
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381 / 7739
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5
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(HPO:0003196)
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Short nose |
Occasional [Orphanet]
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264 / 7739
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6
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(HPO:0000271)
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Abnormality of the face |
Occasional [Orphanet]
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108 / 7739
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7
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(HPO:0000256)
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Macrocephaly |
Frequent [Orphanet]
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298 / 7739
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8
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(HPO:0000336)
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Prominent supraorbital ridges |
Occasional [Orphanet]
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45 / 7739
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9
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(HPO:0000767)
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Pectus excavatum |
Occasional [Orphanet]
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244 / 7739
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10
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(HPO:0004322)
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Short stature |
Very frequent [Orphanet]
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1232 / 7739
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11
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(HPO:0001800)
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Hypoplastic toenails |
Occasional [Orphanet]
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74 / 7739
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12
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(HPO:0001805)
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Thick nail |
Occasional [Orphanet]
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96 / 7739
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13
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(HPO:0001252)
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Muscular hypotonia |
Occasional [Orphanet]
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990 / 7739
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14
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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 |