Deafness-craniofacial syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 21 |
| OrphanetNr: | 3241 |
| OMIM Id: |
125230
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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: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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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 Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000431) | Wide nasal bridge | Very frequent [Orphanet] | 290 / 7739 | |||
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(HPO:0000490) | Deeply set eye | Frequent [Orphanet] | 131 / 7739 | |||
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(HPO:0000430) | Underdeveloped nasal alae | Very frequent [Orphanet] | 90 / 7739 | |||
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(HPO:0010285) | Oral synechia | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0011331) | Hemifacial atrophy | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000324) | Facial asymmetry | 57 / 7739 | ||||
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(HPO:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000582) | Upslanted palpebral fissure | Frequent [Orphanet] | 185 / 7739 | |||
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(HPO:0000322) | Short philtrum | Frequent [Orphanet] | 130 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0000200) | Short lingual frenulum | 4 / 7739 | ||||
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(HPO:0010297) | Bifid tongue | Very frequent [Orphanet] | 17 / 7739 | |||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0001596) | Alopecia | 162 / 7739 | ||||
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(HPO:0001643) | Patent ductus arteriosus | Frequent [Orphanet] | 228 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Temporal alopecia | 1 / 7739 | ||||
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(OMIM) | Small nasal alae | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Kassutto et al. (1987) described a family in which the proband and her father had congenital hearing loss and unusual facies consisting of facial asymmetry, temporal alopecia with frontal bossing, a broad nasal root, and small nasal alae. ... |