From HPO
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Short toe- MedGen UID:
- 322858
- •Concept ID:
- C1836195
- •
- Finding
A toe that appears disproportionately short compared to the foot.
Short metacarpal- MedGen UID:
- 323064
- •Concept ID:
- C1837084
- •
- Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short metatarsal- MedGen UID:
- 341358
- •Concept ID:
- C1849020
- •
- Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Narrow femoral neck- MedGen UID:
- 350962
- •Concept ID:
- C1863739
- •
- Finding
An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Coxa vara- MedGen UID:
- 1790477
- •Concept ID:
- C5551440
- •
- Anatomical Abnormality
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.
Growth abnormality- MedGen UID:
- 808205
- •Concept ID:
- C0262361
- •
- Finding
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.
Osteochondroma- MedGen UID:
- 10496
- •Concept ID:
- C0029423
- •
- Neoplastic Process
A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Intervertebral space narrowing- MedGen UID:
- 78101
- •Concept ID:
- C0263870
- •
- Finding
Decreased height of the intervertebral disk.
Flexion contracture- MedGen UID:
- 83069
- •Concept ID:
- C0333068
- •
- Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Thoracic kyphosis- MedGen UID:
- 263148
- •Concept ID:
- C1184919
- •
- Finding
Over curvature of the thoracic region, leading to a round back or if sever to a hump.
Short femoral neck- MedGen UID:
- 373033
- •Concept ID:
- C1836184
- •
- Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Narrow iliac wing- MedGen UID:
- 373150
- •Concept ID:
- C1836688
- •
- Finding
Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).
Irregular vertebral endplates- MedGen UID:
- 331233
- •Concept ID:
- C1842153
- •
- Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Flat capital femoral epiphysis- MedGen UID:
- 334001
- •Concept ID:
- C1842155
- •
- Finding
An abnormal flattening of the proximal epiphysis of the femur.
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Limitation of joint mobility- MedGen UID:
- 341696
- •Concept ID:
- C1857108
- •
- Finding
A reduction in the freedom of movement of one or more joints.
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Growth abnormality