Phenotypes associated with the disease Pseudoachondroplasia (ORPHA:750):
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:750)
- 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: Very frequent (HP:0040281). (ORPHA:750)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- 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:750)
- 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:750)
- Delayed epiphyseal ossification (HP:0002663). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- Osteoarthritis (HP:0002758): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- Generalized joint hypermobility (HP:0002761): Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- Metaphyseal widening (HP:0003016): Abnormal widening of the metaphyseal regions of long bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- Abnormal vertebral body morphology (HP:0003312): Abnormal form of vertebral body, which is the central cylindrical portion of the vertebra that together with other structures such as the vertebral arch, pedicles, laminae, spinous process, transverse processes, and articular facets makes up a vertebra. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- Shortening of all metacarpals (HP:0005720): Abnormal reduction in length of all metacarpal bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- Increased laxity of fingers (HP:0006149). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- Irregular epiphyses (HP:0010582): An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- Distal joint hypermobility (HP:0020152): Lack of stability of a distal joint (e.g., finger). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- Knee joint hypermobility (HP:0045086): The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- Wind-swept deformity of the knees (HP:0100531): The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:750)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:750)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:750)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:750)
- 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:750)
- 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:750)
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:750)
- Hypoplasia of the capital femoral epiphysis (HP:0003090): Underdevelopment of the proximal epiphysis of the femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:750)
- Limited hip extension (HP:0003093): Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:750)
- 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:750)
- Skeletal myopathy (HP:0003756). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:750)
- Irregular carpal bones (HP:0004236): Carpal bones with irregular or fragmented margins. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:750)
- Beaking of vertebral bodies (HP:0004568): Anterior tongue-like protrusions of the vertebral bodies. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:750)
- Ankle hypermobility (HP:0006460): The ankle joint can move, passively and/or actively, beyond normal limits along its physiological axes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:750)
- Abnormal femoral epiphysis morphology (HP:0006499): An anomaly of a growth plate of a femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:750)
- Acetabular dysplasia (HP:0008807): A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:750)
- Irregular acetabular roof (HP:0008833). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:750)
- Hypoplastic pelvis (HP:0008839): Underdevelopment of the bony pelvis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:750)
- Abnormal ossification involving the femoral head and neck (HP:0009107). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:750)
- Cone-shaped epiphysis (HP:0010579): Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:750)
- Small epiphyses (HP:0010585): Reduction in the size or volume of epiphyses. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:750)
- 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:750)
- Hypoplasia of the odontoid process (HP:0003311): Developmental hypoplasia of the dens of the axis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:750)
- Cervical spine instability (HP:0010646): An abnormal lack of stability of the cervical spine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:750)