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: Sort by abundance 

1
(HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
2
(HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
3
(HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
4
(HPO:0001760) Abnormality of the foot Frequent [Orphanet] 96 / 7739
5
(HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: