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:
MeSH:
MedDRA:
Snomed:

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: Sort by abundance 

1
(HPO:0003045) Abnormality of the patella 33 / 7739
2
(OMIM) Patellar pain 1 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Patellar chondromalacia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...