Trichodental syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Kersey syndrome |
| Number of Symptoms | 22 |
| OrphanetNr: | 3351 |
| OMIM Id: |
601453
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| ICD-10: |
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| UMLs: |
C0406724 |
| MeSH: |
C536551 |
| MedDRA: |
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| Snomed: |
277810000 |
Prevalence, inheritance and age of onset:
| Prevalence: | < 5 families [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 Genetic malformation syndrome with odontal and/or periodontal component -Rare genetic disease Malformation syndrome with odontal and/or periodontal component -Rare developmental defect during embryogenesis -Rare odontologic disease Syndromic hair shaft abnormality -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000668) | Hypodontia | 81 / 7739 | ||||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0009804) | Reduced number of teeth | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000341) | Narrow forehead | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000698) | Conical tooth | 14 / 7739 | ||||
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(HPO:0000446) | Narrow nasal bridge | Very frequent [Orphanet] | 29 / 7739 | |||
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(HPO:0009933) | Narrow naris | Very frequent [Orphanet] | 16 / 7739 | |||
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(HPO:0200102) | Sparse or absent eyelashes | Very frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0000694) | Shell teeth | 2 / 7739 | ||||
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(HPO:0002213) | Fine hair | Very frequent [Orphanet] | 77 / 7739 | |||
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(HPO:0002299) | Brittle hair | 52 / 7739 | ||||
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(HPO:0008070) | Sparse hair | 94 / 7739 | ||||
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(HPO:0002217) | Slow-growing hair | Very frequent [Orphanet] | 22 / 7739 | |||
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(HPO:0010719) | Abnormality of hair texture | Very frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Narrow hair shaft | 1 / 7739 | ||||
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(OMIM) | Absent cuticular scale | 1 / 7739 | ||||
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(OMIM) | Borderline microcephaly | 3 / 7739 | ||||
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(OMIM) | Short anagen phase of hair cycle | 1 / 7739 | ||||
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(OMIM) | Sparse, fine hair | 4 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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