Polysyndactyly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
POLYSYNDACTYLY, UNCOMPLICATED CROSSED POLYDACTYLY, TYPE I, INCLUDED CP1, INCLUDED PPD4 Preaxial polydactyly type 4 |
| Number of Symptoms | 9 |
| OrphanetNr: | 93338 |
| OMIM Id: |
174700
|
| ICD-10: |
Q70.4 |
| UMLs: |
C0265553 |
| MeSH: |
|
| MedDRA: |
10063143 |
| Snomed: |
81330005 84598000 |
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: |
Preaxial polydactyly of fingers
-Preaxial polydactyly of fingers |
Symptom Information:
|
|
(HPO:0000363) | Abnormality of earlobe | 4 / 7739 | ||||
|
|
(HPO:0006097) | 3-4 finger syndactyly | 7 / 7739 | ||||
|
|
(HPO:0010713) | 1-5 toe syndactyly | 1 / 7739 | ||||
|
|
(HPO:0100258) | Preaxial polydactyly | 39 / 7739 | ||||
|
|
(HPO:0005688) | Dysplastic distal thumb phalanges with a central hole | 1 / 7739 | ||||
|
|
(OMIM) | Mild thumb duplication | 1 / 7739 | ||||
|
|
(OMIM) | Crossed polydactyly type I | 1 / 7739 | ||||
|
|
(OMIM) | First or second toe duplication | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|