Deafness - onychodystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 57 |
| OrphanetNr: | 3231 |
| OMIM Id: |
124480
220500 |
| ICD-10: |
Q87.8 |
| 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: | < 50 cases [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease Syndromic nail anomaly -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000072) | Hydroureter | Occasional [Orphanet] | 146 / 7739 | |||
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(HPO:0000079) | Abnormality of the urinary system | Occasional [Orphanet] | 88 / 7739 | |||
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(HPO:0008678) | Renal hypoplasia/aplasia | Occasional [Orphanet] | 127 / 7739 | |||
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(HPO:0000286) | Epicanthus | Occasional [Orphanet] | 371 / 7739 | |||
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(HPO:0000698) | Conical tooth | Occasional [HPO:probinson] | 14 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Occasional [Orphanet] | 305 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0009928) | Thick nasal alae | Very frequent [Orphanet] | 21 / 7739 | |||
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(HPO:0000343) | Long philtrum | Very frequent [Orphanet] | 262 / 7739 | |||
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(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000294) | Low anterior hairline | Frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0000341) | Narrow forehead | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0012471) | Thick vermilion border | Frequent [Orphanet] | 115 / 7739 | |||
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(HPO:0001592) | Selective tooth agenesis | Occasional [HPO:skoehler] | 16 / 7739 | |||
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(HPO:0001305) | Dandy-Walker malformation | Occasional [Orphanet] | 79 / 7739 | |||
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(HPO:0000280) | Coarse facial features | Very frequent [Orphanet] | 189 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0009804) | Reduced number of teeth | Frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000233) | Thin vermilion border | Very frequent [Orphanet] | 124 / 7739 | |||
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(HPO:0000232) | Everted lower lip vermilion | Occasional [Orphanet] | 90 / 7739 | |||
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(HPO:0006482) | Abnormality of dental morphology | Frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0000445) | Wide nose | Very frequent [Orphanet] | 190 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Occasional [Orphanet] | 298 / 7739 | |||
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(HPO:0000545) | Myopia | Frequent [Orphanet] | 286 / 7739 | |||
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(HPO:0000486) | Strabismus | Frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0000508) | Ptosis | Very frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0000639) | Nystagmus | Frequent [Orphanet] | 555 / 7739 | |||
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(HPO:0008053) | Aplasia/Hypoplasia of the iris | Frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0000518) | Cataract | Frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002353) | EEG abnormality | Frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0009830) | Peripheral neuropathy | Occasional [Orphanet] | 206 / 7739 | |||
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(HPO:0009700) | Finger symphalangism | Frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0001770) | Toe syndactyly | 149 / 7739 | ||||
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(HPO:0009882) | Short distal phalanx of finger | Frequent [Orphanet] | 125 / 7739 | |||
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(HPO:0001156) | Brachydactyly syndrome | 180 / 7739 | ||||
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(HPO:0002797) | Osteolysis | Very frequent [Orphanet] | 68 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 | |||
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(HPO:0008404) | Nail dystrophy | 89 / 7739 | ||||
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(HPO:0001804) | Hypoplastic fingernail | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0001792) | Small nail | 55 / 7739 | ||||
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(HPO:0007529) | Hidrotic ectodermal dysplasia | 3 / 7739 | ||||
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(HPO:0001798) | Anonychia | 28 / 7739 | ||||
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(HPO:0001800) | Hypoplastic toenails | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0001643) | Patent ductus arteriosus | Occasional [Orphanet] | 228 / 7739 | |||
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(HPO:0001629) | Ventricular septal defect | Occasional [Orphanet] | 316 / 7739 | |||
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(HPO:0001631) | Atria septal defect | Occasional [Orphanet] | 274 / 7739 | |||
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(HPO:0004337) | Abnormality of amino acid metabolism | Occasional [Orphanet] | 45 / 7739 | |||
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(HPO:0002205) | Recurrent respiratory infections | Occasional [Orphanet] | 254 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0002120) | Cerebral cortical atrophy | Frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0001199) | Triphalangeal thumb | Occasional [Orphanet] rare [HPO:skoehler] | 56 / 7739 | |||
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(HPO:0000238) | Hydrocephalus | Occasional [Orphanet] | 278 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0003577) | Congenital onset | 133 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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