- Genu varum (HP:0002970): A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93356)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93356)
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93356)
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93356)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93356)
- Flattened epiphysis (HP:0003071): Abnormal flatness (decreased height) of epiphyses. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93356)
- Disproportionate short stature (HP:0003498): A kind of short stature in which different regions of the body are shortened to differing extents. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93356)
- Pear-shaped vertebrae (HP:0004566): Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93356)
- Knee osteoarthritis (HP:0005086). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93356)
- Short lower limbs (HP:0006385): Shortening of the legs related to developmental hypoplasia of the bones of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93356)
- Small epiphyses (HP:0010585): Reduction in the size or volume of epiphyses. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93356)
- Thick growth plates (HP:0025369): Increased thickness (dimension along the axis of the bone) of the growth plate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93356)
These phenotypes are associated with the disease Spondyloepimetaphyseal dysplasia, Missouri type (ORPHA:93356).