Congenital laryngomalacia
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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10
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OrphanetNr:
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2373
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OMIM Id:
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150280
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ICD-10:
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Q31.5
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UMLs:
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C0345160
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MeSH:
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D055092
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MedDRA:
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10060786
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Snomed:
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253737007
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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 dominant inheritance
[Omim]
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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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Larynx anomaly
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare otorhinolaryngologic disease
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1
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(HPO:0000174)
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Abnormality of the palate |
Frequent [Orphanet]
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298 / 7739
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2
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(HPO:0000204)
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Cleft upper lip |
Frequent [Orphanet]
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193 / 7739
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3
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(HPO:0002778)
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Abnormality of the trachea |
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3 / 7739
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4
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(HPO:0002098)
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Respiratory distress |
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75 / 7739
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5
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(HPO:0001601)
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Laryngomalacia |
Very frequent [Orphanet]
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61 / 7739
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6
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(HPO:0001608)
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Abnormality of the voice |
Very frequent [Orphanet]
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126 / 7739
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7
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(HPO:0004886)
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Congenital laryngeal stridor |
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3 / 7739
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8
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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9
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(OMIM)
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Tracheal cartilage hypercellularity and tinctorial peculiarities of the matrix |
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1 / 7739
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10
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(OMIM)
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Congenital stridor |
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2 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |