- Abnormality of the vertebral column (HP:0000925): Any abnormality of the vertebral column. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93314)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93314)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93314)
- Delayed epiphyseal ossification (HP:0002663). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93314)
- Disproportionate short-trunk short stature (HP:0003521): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93314)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- Short tubular bones of the hand (HP:0001248): Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- 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:93314)
- Carpal bone hypoplasia (HP:0001498): Underdevelopment of one or more carpal bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- Waddling gait (HP:0002515): Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- Coxa vara (HP:0002812): Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- Abnormal ilium morphology (HP:0002867): An abnormality of the ilium, the largest and uppermost bone of the pelvis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- Flared iliac wing (HP:0002869): Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- 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:93314)
- Metaphyseal widening (HP:0003016): Abnormal widening of the metaphyseal regions of long bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- Premature osteoarthritis (HP:0003088). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- Abnormal acetabulum morphology (HP:0003170): An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- Squared iliac bones (HP:0003177): A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- Abnormal enchondral ossification (HP:0003336): An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- Short middle phalanx of finger (HP:0005819): Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- Short metatarsal (HP:0010743): Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93314)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Shield chest (HP:0000914): A broad chest. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Thoracic kyphosis (HP:0002942): Over curvature of the thoracic region, leading to a round back or if sever to a hump. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Abnormality of the radioulnar joints (HP:0003059). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Limb joint contracture (HP:0003121): A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Flat acetabular roof (HP:0003180): Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Short greater sciatic notch (HP:0003185): The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Hypoplasia of the odontoid process (HP:0003311): Developmental hypoplasia of the dens of the axis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Coronal cleft vertebrae (HP:0003417): Frontal schisis (cleft or cleavage) of vertebral bodies. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Abnormal humeral metaphysis morphology (HP:0003907). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Cervical platyspondyly (HP:0004558): A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Vertebral wedging (HP:0008422): An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Absent epiphyses of the phalanges of the hand (HP:0010228): Absence of one or more epiphyses of the phalanges of the fingers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Flattened femoral epiphysis (HP:0030289): An abnormal flattening of an epiphysis of femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Increased intervertebral space (HP:0030320): An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Short femoral neck (HP:0100864): An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93314)
These phenotypes are associated with the disease Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314).