Phenotypes associated with the disease Metaphyseal chondrodysplasia, Schmid type (ORPHA:174):
- 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: Very frequent (HP:0040281). (ORPHA:174)
- 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: Very frequent (HP:0040281). (ORPHA:174)
- Metaphyseal cupping (HP:0003021): Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:174)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:174)
- Abnormal proximal femoral metaphysis morphology (HP:0006431): An anomaly of the metaphysis of the proximal femur (close to the hip). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:174)
- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:174)
- Thick growth plates (HP:0025369): Increased thickness (dimension along the axis of the bone) of the growth plate. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:174)
- Abnormal distal femoral metaphysis morphology (HP:0030299): An anomaly of the metaphysis of the distal femur (close to the knee). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:174)
- Anterior rib cupping (HP:0000907): Wide, concave anterior rib end. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:174)
- 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:174)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:174)
- 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:174)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:174)
- 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:174)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:174)
- Proximal femoral metaphyseal irregularity (HP:0003411): Irregularity of the normally smooth surface of the proximal metaphysis of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:174)
- Widened proximal tibial metaphyses (HP:0005028). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:174)
- Abnormal hand metaphysis morphology (HP:0005923). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:174)
- Metaphyseal cupping of metacarpals (HP:0006028): Metaphyseal cupping affecting the metacarpal bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:174)
- Metaphyseal cupping of proximal phalanges (HP:0006208): Metaphyseal cupping affecting the proximal phalanges. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:174)
- Osteosclerosis of ribs (HP:0006634): Osteosclerosis of ribs (increased density related to increased bone mass). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:174)
- Disproportionate short-limb short stature (HP:0008873): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:174)
- Broad proximal phalanges of the hand (HP:0009852): Increased width of the proximal phalanges of the finger. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:174)
- Distal femoral metaphyseal irregularity (HP:0045079): Irregularity of the normally smooth surface of the distal metaphysis of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:174)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:174)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:174)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:174)
- 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:174)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:174)
- Irregular vertebral endplates (HP:0003301): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:174)
- Abnormal vertebral morphology (HP:0003468): An abnormality of one or more of the vertebrae. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:174)
- Radial metaphyseal irregularity (HP:0004019): Irregularity of the normally smooth surface of the metaphysis of the radius. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:174)
- Ulnar metaphyseal irregularity (HP:0004042): Irregularity of the normally smooth surface of the metaphysis of the ulna. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:174)