Auriculocondylar syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Question mark ear syndrome |
| Number of Symptoms | 24 |
| OrphanetNr: | 137888 |
| OMIM Id: |
602483
614669 |
| ICD-10: |
Q75.8 |
| UMLs: |
C1865295 |
| MeSH: |
C538270 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Branchial arch or oral-acral syndrome
-Rare developmental defect during embryogenesis Genetic branchial arch or oral-acral syndrome -Rare genetic disease Oculo-auriculo-vertebral spectrum -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0007628) | Mandibular condyle hypoplasia | 4 / 7739 | ||||
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(HPO:0000256) | Macrocephaly | 298 / 7739 | ||||
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(HPO:0007627) | Mandibular condyle aplasia | 3 / 7739 | ||||
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(HPO:0000160) | Narrow mouth | 52% [HPO:probinson] | 188 / 7739 | |||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000162) | Glossoptosis | 46% [HPO:probinson] | 26 / 7739 | |||
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(HPO:0000689) | Dental malocclusion | 114 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 71% [HPO:probinson] | 426 / 7739 | |||
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(HPO:0000311) | Round face | 104 / 7739 | ||||
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(HPO:0009102) | Anterior open-bite malocclusion | 5 / 7739 | ||||
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(HPO:0000678) | Dental crowding | 65 / 7739 | ||||
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(HPO:0000402) | Stenosis of the external auditory canal | 30% [HPO:probinson] | 22 / 7739 | |||
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(HPO:0008537) | Cleft at the superior portion of the pinna | 3 / 7739 | ||||
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(HPO:0000384) | Preauricular skin tag | 62 / 7739 | ||||
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(HPO:0008559) | Hypoplastic superior helix | 6 / 7739 | ||||
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(HPO:0004453) | Overfolding of the superior helices | 5 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0000358) | Posteriorly rotated ears | 163 / 7739 | ||||
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(HPO:0000378) | Cupped ear | 34 / 7739 | ||||
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(HPO:0004451) | Postauricular skin tag | 1 / 7739 | ||||
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(HPO:0005216) | Chewing difficulties | 6 / 7739 | ||||
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(HPO:0009088) | Speech articulation difficulties | 4 / 7739 | ||||
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(HPO:0002104) | Apnea | 106 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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