Symbrachydactyly of hands and feet
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
De Smet-Fabry-Fryns syndrome
|
|
Number of Symptoms
|
8
|
|
OrphanetNr:
|
1570
|
|
OMIM Id:
|
|
|
ICD-10:
|
Q73.8
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
Brachydactyly
-Rare bone disease
-Rare developmental defect during embryogenesis
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0009800)
|
Maternal diabetes |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
2
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
3
|
(HPO:0100745)
|
Abnormality of the humeroulnar joint |
Very frequent [Orphanet]
|
|
|
|
4 / 7739
|
|
4
|
(HPO:0002997)
|
Abnormality of the ulna |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
5
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0003063)
|
Abnormality of the humerus |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
7
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
8
|
(HPO:0003422)
|
Vertebral segmentation defect |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |