Syndactyly type 1
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 3 |
| OrphanetNr: | 93402 |
| OMIM Id: |
185900
609815 |
| ICD-10: |
Q70 |
| 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: | 25 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndactyly
-Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
|
|
(HPO:0009700) | Finger symphalangism | Occasional [Orphanet] | 55 / 7739 | |||
|
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(HPO:0006101) | Finger syndactyly | Very frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0001770) | Toe syndactyly | Very frequent [Orphanet] | 149 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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