Fibular dimelia - diplopodia
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
Leg duplication - mirror foot
|
|
Number of Symptoms
|
3
|
|
OrphanetNr:
|
1757
|
|
OMIM Id:
|
|
|
ICD-10:
|
Q74.8
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
11
cases
[Orphanet]
|
|
Inheritance:
|
Not applicable
[Orphanet]
|
|
Age of onset:
|
Neonatal
[Orphanet]
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
-Rare bone disease
-Rare developmental defect during embryogenesis
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0009792)
|
Teratoma |
Frequent [Orphanet]
|
|
|
|
7 / 7739
|
|
2
|
(HPO:0000271)
|
Abnormality of the face |
Frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
3
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |