Laryngeal abductor paralysis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
VOCAL CORD DYSFUNCTION, FAMILIAL LABD Familial vocal cord dysfunction gerhardt syndrome |
| Number of Symptoms | 12 |
| OrphanetNr: | 2808 |
| OMIM Id: |
150260
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| ICD-10: |
J38.0 |
| 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:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Larynx anomaly
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0002015) | Dysphagia | 301 / 7739 | ||||
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(HPO:0001605) | Vocal cord paralysis | 13 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001601) | Laryngomalacia | Very frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0010307) | Stridor | 19 / 7739 | ||||
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(HPO:0002093) | Respiratory insufficiency | Frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0011420) | Death | Occasional [Orphanet] | 184 / 7739 | |||
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(OMIM) | Infantile swallowing difficulty | 2 / 7739 | ||||
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(OMIM) | Neonatal stridor | 1 / 7739 | ||||
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(OMIM) | Laryngeal abductor paralysis | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Grundfast and Milmoe (1982) reported congenital bilateral abductor vocal cord paralysis in a father and his son and daughter. The vocal cord paralysis was associated with swallowing difficulty during infancy in all 3. Although both the son and ... |