Auriculoocular anomalies - cleft lip
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 21 |
| OrphanetNr: | 71270 |
| OMIM Id: |
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| ICD-10: |
Q87.0 |
| 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: | 2 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Neonatal Infancy [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 Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0009796) | Branchial cyst | Frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000445) | Wide nose | Frequent [Orphanet] | 190 / 7739 | |||
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(HPO:0002002) | Deep philtrum | Frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0000457) | Depressed nasal ridge | Frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0000202) | Oral cleft | Frequent [Orphanet] | 120 / 7739 | |||
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(HPO:0000204) | Cleft upper lip | Very frequent [Orphanet] | 193 / 7739 | |||
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(HPO:0001357) | Plagiocephaly | Frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0000430) | Underdeveloped nasal alae | Frequent [Orphanet] | 90 / 7739 | |||
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(HPO:0000572) | Visual loss | Frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0000639) | Nystagmus | Frequent [Orphanet] | 555 / 7739 | |||
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(HPO:0000545) | Myopia | Frequent [Orphanet] | 286 / 7739 | |||
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(HPO:0011265) | Cleft earlobe | Frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000921) | Missing ribs | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0000767) | Pectus excavatum | Frequent [Orphanet] | 244 / 7739 | |||
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(HPO:0002808) | Kyphosis | Frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0010880) | Increased nuchal translucency | Frequent [Orphanet] | 13 / 7739 | |||
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(HPO:0002566) | Intestinal malrotation | Frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Frequent [Orphanet] | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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