Congenital bowing of long bones
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 2 |
| OrphanetNr: | 2292 |
| OMIM Id: |
211355
264050 |
| ICD-10: |
Q68.3 Q68.4 Q68.5 Q68.8 |
| UMLs: |
C1096546 |
| MeSH: |
|
| MedDRA: |
10054064 |
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Bent bone dysplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Congenital deformities of limbs -Rare developmental defect during embryogenesis |
Symptom Information:
|
|
(HPO:0003307) | Hyperlordosis | Very frequent [Orphanet] | 122 / 7739 | |||
|
|
(HPO:0006487) | Bowing of the long bones | Very frequent [Orphanet] | 95 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|