Tricho-retino-dento-digital syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
bork syndrome Uncombable hair - retinal pigmentary dystrophy - dental anomalies - brachydactyly |
| Number of Symptoms | 23 |
| OrphanetNr: | 1264 |
| OMIM Id: |
191482
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| ICD-10: |
Q82.4 |
| 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: | 9 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [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 |
Symptom Information:
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(HPO:0000047) | Hypospadias | Occasional [Orphanet] | 250 / 7739 | |||
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(HPO:0009804) | Reduced number of teeth | Frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0011069) | Increased number of teeth | 39 / 7739 | ||||
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(HPO:0000164) | Abnormality of the teeth | Very frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0000691) | Microdontia | 104 / 7739 | ||||
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(HPO:0000677) | Oligodontia | 41 / 7739 | ||||
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(HPO:0001118) | Juvenile cataract | 3 / 7739 | ||||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0008036) | Retinal pigmentary dystrophy | 1 / 7739 | ||||
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(HPO:0001155) | Abnormality of the hand | Frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0010049) | Short metacarpal | 99 / 7739 | ||||
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(HPO:0001831) | Short toe | 52 / 7739 | ||||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0010241) | Short proximal phalanx of finger | 4 / 7739 | ||||
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(HPO:0001156) | Brachydactyly syndrome | 180 / 7739 | ||||
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(HPO:0002235) | Pili canaliculi | 4 / 7739 | ||||
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(HPO:0002225) | Sparse pubic hair | Very frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(MedDRA:10072883) | Brachydactyly | 153 / 7739 | ||||
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(HPO:0030056) | Uncombable hair | 3 / 7739 | ||||
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(OMIM) | Pili trianguli | 1 / 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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