Alar cartilages hypoplasia - coloboma - telecanthus
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ALAR-NASAL CARTILAGES, COLOBOMA OF, WITH TELECANTHUS |
| Number of Symptoms | 9 |
| OrphanetNr: | 2007 |
| OMIM Id: |
203000
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| ICD-10: |
Q75.8 |
| 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: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000444) | Convex nasal ridge | Very frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0000506) | Telecanthus | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000436) | Abnormality of the nasal tip | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0003191) | Cleft ala nasi | 8 / 7739 | ||||
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(HPO:0000430) | Underdeveloped nasal alae | 90 / 7739 | ||||
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(HPO:0000204) | Cleft upper lip | Very frequent [Orphanet] | 193 / 7739 | |||
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(HPO:0000431) | Wide nasal bridge | Very frequent [Orphanet] | 290 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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