Femur-fibula-ulna complex
General Information (adopted from Orphanet):
| Synonyms, Signs: |
FFU SYNDROME PFFD FFU complex Femur-fibula-ulna dysostosis Proximal focal femoral deficiency Femur-fibula-ulna syndrome |
| Number of Symptoms | 8 |
| OrphanetNr: | 2019 |
| OMIM Id: |
228200
|
| ICD-10: |
Q72.8 |
| UMLs: |
C2363814 |
| MeSH: |
C537918 |
| MedDRA: |
10068448 |
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 1.5 of 100 000 [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Dysostosis with combined reduction defects of upper and lower limbs
-Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
|
|
(HPO:0002818) | Abnormality of the radius | Very frequent [Orphanet] | 96 / 7739 | |||
|
|
(HPO:0006101) | Finger syndactyly | Very frequent [Orphanet] | 198 / 7739 | |||
|
|
(HPO:0002997) | Abnormality of the ulna | Very frequent [Orphanet] | 75 / 7739 | |||
|
|
(HPO:0009380) | Aplasia of the fingers | Very frequent [Orphanet] | 51 / 7739 | |||
|
|
(HPO:0003027) | Mesomelia | Very frequent [Orphanet] | 58 / 7739 | |||
|
|
(HPO:0009811) | Abnormality of the elbow | Frequent [Orphanet] | 30 / 7739 | |||
|
|
(HPO:0002823) | Abnormality of the femur | Very frequent [Orphanet] | 61 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Occasional [Orphanet] | 1232 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|