Syndactyly type 2
General Information (adopted from Orphanet):
Synonyms, Signs: |
Synpolydactyly |
Number of Symptoms | 12 |
OrphanetNr: | 93403 |
OMIM Id: |
186000
608180 610234 |
ICD-10: |
Q70 |
UMLs: |
C2699746 |
MeSH: |
C538153 |
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
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:0004279) | Short palm | Frequent [Orphanet] | 323 / 7739 | |||
|
(HPO:0006101) | Finger syndactyly | Very frequent [Orphanet] | 198 / 7739 | |||
|
(HPO:0009700) | Finger symphalangism | Frequent [Orphanet] | 55 / 7739 | |||
|
(HPO:0006494) | Aplasia/Hypoplasia involving bones of the feet | Frequent [Orphanet] | 69 / 7739 | |||
|
(HPO:0001841) | Preaxial foot polydactyly | Occasional [Orphanet] | 24 / 7739 | |||
|
(HPO:0001830) | Postaxial foot polydactyly | Frequent [Orphanet] | 37 / 7739 | |||
|
(HPO:0100490) | Camptodactyly of finger | Frequent [Orphanet] | 212 / 7739 | |||
|
(HPO:0004209) | Clinodactyly of the 5th finger | Frequent [Orphanet] | 288 / 7739 | |||
|
(HPO:0001770) | Toe syndactyly | Very frequent [Orphanet] | 149 / 7739 | |||
|
(HPO:0001162) | Postaxial hand polydactyly | Occasional [Orphanet] | 119 / 7739 | |||
|
(HPO:0001852) | Sandal gap | Occasional [Orphanet] | 63 / 7739 | |||
|
(HPO:0001163) | Abnormality of the metacarpal bones | Frequent [Orphanet] | 149 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|