Phenotypes associated with the disease Progressive pseudorheumatoid dysplasia (ORPHA:1159):
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1159)
- Joint swelling (HP:0001386). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1159)
- 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:1159)
- Spondyloepiphyseal dysplasia (HP:0002655): A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1159)
- Irregular vertebral endplates (HP:0003301): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1159)
- Narrow small joints of the hand (HP:0004267). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1159)
- Polyarticular arthropathy (HP:0005195). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1159)
- Wrist swelling (HP:0001225). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1159)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1159)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1159)
- Abnormal hip joint morphology (HP:0001384): An abnormality of the hip joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1159)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1159)
- Abnormality of the knee (HP:0002815): An abnormality of the knee joint or surrounding structures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1159)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1159)
- Easy fatigability (HP:0003388): Increased susceptibility to fatigue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1159)
- Thoracolumbar kyphoscoliosis (HP:0003423). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1159)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1159)
- Irregularity of vertebral bodies (HP:0004582). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1159)
- Hyperconvex vertebral body endplates (HP:0004603). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1159)
- Abnormality of hand joint mobility (HP:0006256). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1159)
- 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: Frequent (HP:0040282). (ORPHA:1159)
- Joint contracture of the hand (HP:0009473): Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1159)
- Abnormality of the elbow (HP:0009811): An anomaly of the joint that connects the upper and the lower arm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1159)
- Infancy onset short-trunk short stature (HP:0011406): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1159)
- Camptodactyly (HP:0012385): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1159)
- Abnormality of the neck (HP:0000464): An abnormality of the neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1159)
- 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: Occasional (HP:0040283). (ORPHA:1159)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1159)
- Abnormal ilium morphology (HP:0002867): An abnormality of the ilium, the largest and uppermost bone of the pelvis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1159)
- 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: Occasional (HP:0040283). (ORPHA:1159)
- Abnormal shoulder morphology (HP:0003043): An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1159)
- Hyperlordosis (HP:0003307): Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1159)
- Flat capital femoral epiphysis (HP:0003370): An abnormal flattening of the proximal epiphysis of the femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1159)
- Enlargement of the proximal femoral epiphysis (HP:0003371): An abnormal enlargement of the proximal epiphysis of the femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1159)
- Beaking of vertebral bodies (HP:0004568): Anterior tongue-like protrusions of the vertebral bodies. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1159)
- Enlarged interphalangeal joints (HP:0006247). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1159)
- Broad femoral neck (HP:0006429): An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1159)
- Irregular acetabular roof (HP:0008833). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1159)
- Enlarged epiphyses (HP:0010580): Increased size of epiphyses. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1159)
- Periarticular calcification (HP:0025477): Calcified deposits in soft tissue structures outside a joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1159)
- Generalized osteoporosis (HP:0040160). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1159)
- 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:1159)
Not associated with this disease:
- Rheumatoid factor positive (HP:0002923): The presence in the serum of an autoantibody directed against the Fc portion of IgG. Evidence: TAS. (ORPHA:1159)
- Abnormal erythrocyte sedimentation rate (HP:0025021): A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. Evidence: TAS. (ORPHA:1159)
- Abnormal circulating C-reactive protein concentration (HP:0032436): Any deviation from the normal concentration of C-reactive protein in the blood circulation. Evidence: TAS. (ORPHA:1159)