Familial chondromalacia patellae
General Information (adopted from Orphanet):
Synonyms, Signs: |
Patellofemoral syndrome |
Number of Symptoms | 4 |
OrphanetNr: | 1428 |
OMIM Id: |
168900
|
ICD-10: |
M22.4 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Y-linked [Orphanet] |
Age of onset: |
Adolescent [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Patellar dysostosis
-Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
|
(HPO:0003045) | Abnormality of the patella | 33 / 7739 | ||||
|
(OMIM) | Patellar pain | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Patellar chondromalacia | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
This disorder is characterized by well-localized pain when the patella is grated against the femoral condyles or when the knee is actively extended with the patella manually displaced distally. Rubacky (1963) described 5 families with multiple affected persons ... |