Laryngo-tracheo-esophageal cleft
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LC LTEC Laryngo-tracheo-esophageal diastema |
| Number of Symptoms | 9 |
| OrphanetNr: | 2004 |
| OMIM Id: |
215800
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| ICD-10: |
Q32.1 |
| 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: | 7.5 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Larynx anomaly
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease Nonsyndromic respiratory or mediastinal malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare surgical thoracic disease Respiratory malformation -Rare respiratory disease |
Symptom Information:
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(HPO:0000961) | Cyanosis | 60 / 7739 | ||||
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(HPO:0006511) | Laryngeal stridor | 6 / 7739 | ||||
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(HPO:0001601) | Laryngomalacia | Very frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0002835) | Aspiration | 11 / 7739 | ||||
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(HPO:0001608) | Abnormality of the voice | 126 / 7739 | ||||
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(OMIM) | Abnormal | 2 / 7739 | ||||
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(MedDRA:10008589) | Choking | 6 / 7739 | ||||
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(OMIM) | Cleft larynx | 2 / 7739 | ||||
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(OMIM) | Persistent esophagotrachea | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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