Phenotypes associated with the disease pelvic dysplasia-arthrogryposis of lower limbs syndrome (OMIM:602484):
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 5/5. (PMID:9489787)
- 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: PCS. Frequency: 4/5. (PMID:9489787)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 5/5. (PMID:9489787)
- Paraspinal muscle hypertrophy (HP:0012894): Muscle hypertrophy affecting the paraspinal muscles. Evidence: PCS. Frequency: 5/5. (PMID:9489787)
- Narrow pelvis bone (HP:0003275): Reduced side to side width of the pelvis. Evidence: PCS. Frequency: 5/5. (PMID:9489787)
- Scapular winging (HP:0003691): Abnormal protrusion of the scapula away from the surface of the back. Evidence: PCS. Frequency: 4/5. (PMID:9489787)
- Hip contracture (HP:0003273): Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. Evidence: PCS. Frequency: 4/5. (PMID:9489787)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: PCS. Frequency: 5/5. (PMID:9489787)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: PCS. (PMID:9489787)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: PCS. Frequency: 4/5. (PMID:9489787)
- Congenital foot contractures (HP:0005745). Evidence: PCS. Frequency: 5/5. (PMID:9489787)