Sternal malformation - vascular dysplasia
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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15
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OrphanetNr:
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3195
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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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Vascular anomaly or angioma
-Rare circulatory system disease
-Rare developmental defect during embryogenesis
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1
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(HPO:0000277)
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Abnormality of the mandible |
Frequent [Orphanet]
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394 / 7739
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2
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(HPO:0000162)
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Glossoptosis |
Occasional [Orphanet]
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26 / 7739
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3
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(HPO:0000464)
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Abnormality of the neck |
Very frequent [Orphanet]
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31 / 7739
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4
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(HPO:0000204)
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Cleft upper lip |
Occasional [Orphanet]
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193 / 7739
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5
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(HPO:0000252)
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Microcephaly |
Occasional [Orphanet]
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832 / 7739
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6
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(HPO:0100657)
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Thoracoabdominal eventration |
Very frequent [Orphanet]
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2 / 7739
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7
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(HPO:0001052)
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Nevus flammeus |
Very frequent [Orphanet]
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88 / 7739
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8
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(HPO:0100585)
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Telangiectasia of the skin |
Frequent [Orphanet]
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66 / 7739
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9
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(HPO:0001048)
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Cavernous hemangioma |
Very frequent [Orphanet]
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28 / 7739
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10
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(HPO:0001053)
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Hypopigmented skin patches |
Frequent [Orphanet]
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80 / 7739
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11
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(HPO:0100761)
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Visceral angiomatosis |
Occasional [Orphanet]
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21 / 7739
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12
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(HPO:0001697)
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Abnormality of the pericardium |
Occasional [Orphanet]
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52 / 7739
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13
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(HPO:0002093)
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Respiratory insufficiency |
Occasional [Orphanet]
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410 / 7739
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14
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(HPO:0001252)
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Muscular hypotonia |
Occasional [Orphanet]
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990 / 7739
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15
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(HPO:0012758)
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Neurodevelopmental delay |
Occasional [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |