Tricho-odonto-onychodysplasia - dominant syndactyly
General Information (adopted from Orphanet):
Synonyms, Signs: |
Trueb-Burg-Bottani syndrome |
Number of Symptoms | 5 |
OrphanetNr: | 3357 |
OMIM Id: |
|
ICD-10: |
|
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant inheritance |
Age of onset: |
|
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 |
Symptom Information:
|
(HPO:0000164) | Abnormality of the teeth | Very frequent [Orphanet] | 291 / 7739 | |||
|
(HPO:0006101) | Finger syndactyly | Very frequent [Orphanet] | 198 / 7739 | |||
|
(HPO:0001163) | Abnormality of the metacarpal bones | Frequent [Orphanet] | 149 / 7739 | |||
|
(HPO:0001760) | Abnormality of the foot | Frequent [Orphanet] | 96 / 7739 | |||
|
(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|