Limb transversal defect - cardiac anomaly
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Hecht-Scott syndrome
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Number of Symptoms
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10
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OrphanetNr:
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2492
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OMIM Id:
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ICD-10:
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Q87.2
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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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Syndrome with limb reduction defects
-Rare bone disease
-Rare developmental defect during embryogenesis
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1
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(HPO:0001850)
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Abnormality of the tarsal bones |
Frequent [Orphanet]
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40 / 7739
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2
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(HPO:0004050)
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Absent hand |
Very frequent [Orphanet]
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9 / 7739
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3
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(HPO:0002992)
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Abnormality of the tibia |
Very frequent [Orphanet]
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51 / 7739
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4
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(HPO:0006101)
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Finger syndactyly |
Frequent [Orphanet]
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198 / 7739
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5
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(HPO:0002991)
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Abnormality of the fibula |
Very frequent [Orphanet]
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49 / 7739
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6
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(HPO:0009380)
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Aplasia of the fingers |
Frequent [Orphanet]
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51 / 7739
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7
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(HPO:0001622)
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Premature birth |
Frequent [Orphanet]
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100 / 7739
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8
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(HPO:0004322)
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Short stature |
Frequent [Orphanet]
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1232 / 7739
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9
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(HPO:0001626)
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Abnormality of the cardiovascular system |
Frequent [Orphanet]
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73 / 7739
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10
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(HPO:0002093)
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Respiratory insufficiency |
Frequent [Orphanet]
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410 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |