From HPO
Knee pain- MedGen UID:
- 65421
- •Concept ID:
- C0231749
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.
Short lower limbs- MedGen UID:
- 98100
- •Concept ID:
- C0426901
- •
- Finding
Shortening of the legs related to developmental hypoplasia of the bones of the leg.
Genu valgum- MedGen UID:
- 154364
- •Concept ID:
- C0576093
- •
- Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
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).
Disproportionate short stature- MedGen UID:
- 168053
- •Concept ID:
- C0878659
- •
- Finding
A kind of short stature in which different regions of the body are shortened to differing extents.
Waddling gait- MedGen UID:
- 66667
- •Concept ID:
- C0231712
- •
- Finding
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.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Osteochondritis dissecans- MedGen UID:
- 10494
- •Concept ID:
- C0029421
- •
- Disease or Syndrome
A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.
Metaphyseal chondrodysplasia- MedGen UID:
- 120528
- •Concept ID:
- C0265290
- •
- Congenital Abnormality
An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.
Metaphyseal widening- MedGen UID:
- 341364
- •Concept ID:
- C1849039
- •
- Finding
Abnormal widening of the metaphyseal regions of long bones.
Progressive leg bowing- MedGen UID:
- 381580
- •Concept ID:
- C1855191
- •
- Finding
Progressive bending or abnormal curvature of the leg.
Metaphyseal sclerosis- MedGen UID:
- 765440
- •Concept ID:
- C3552526
- •
- Finding
Abnormally increased density of metaphyseal bone.
Metaphyseal dysplasia- MedGen UID:
- 1677924
- •Concept ID:
- C5194606
- •
- Disease or Syndrome
The presence of dysplastic regions in metaphyseal regions.
Bowing of the legs- MedGen UID:
- 1807399
- •Concept ID:
- C5574706
- •
- Finding
A bending or abnormal curvature affecting a long bone of the leg.
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Growth abnormality