Phenotypes associated with the disease Congenital patella dislocation (ORPHA:295036):
- Patellar dislocation (HP:0002999): The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:295036)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295036)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295036)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295036)
- Limited knee extension (HP:0003066): Reduced ability to extend (straighten) the knee joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295036)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295036)
- Knee flexion contracture (HP:0006380): A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295036)
- Aplasia/Hypoplasia of the quadriceps (HP:0009787): Absence or underdevelopment of the quadriceps muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:295036)