From HPO
Fatigue- MedGen UID:
- 41971
- •Concept ID:
- C0015672
- •
- Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Foot pain- MedGen UID:
- 42074
- •Concept ID:
- C0016512
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot.
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.
Osteoarthritis, knee- MedGen UID:
- 98371
- •Concept ID:
- C0409959
- •
- Disease or Syndrome
Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)
Tibial torsion- MedGen UID:
- 98099
- •Concept ID:
- C0426900
- •
- Finding
Twisted position of the tibia (shin bone) associated with pathological rotation of the leg.
Genu varum- MedGen UID:
- 154257
- •Concept ID:
- C0544755
- •
- Finding
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.
Short palm- MedGen UID:
- 334684
- •Concept ID:
- C1843108
- •
- Finding
Short palm.
Flattened knee epiphyses- MedGen UID:
- 870696
- •Concept ID:
- C4025150
- •
- Anatomical Abnormality
Mild short stature- MedGen UID:
- 461427
- •Concept ID:
- C3150077
- •
- Finding
A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.
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.
Broad-based gait- MedGen UID:
- 167799
- •Concept ID:
- C0856863
- •
- Finding
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
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.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Epiphyseal dysplasia- MedGen UID:
- 95932
- •Concept ID:
- C0392476
- •
- Congenital Abnormality
Irregular epiphyses- MedGen UID:
- 337584
- •Concept ID:
- C1846449
- •
- Finding
An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.
Small epiphyses- MedGen UID:
- 339612
- •Concept ID:
- C1846803
- •
- Finding
Reduction in the size or volume of epiphyses.
Flattened epiphysis- MedGen UID:
- 387844
- •Concept ID:
- C1857527
- •
- Finding
Abnormal flatness (decreased height) of epiphyses.
Developmental dysplasia of the hip- MedGen UID:
- 1640560
- •Concept ID:
- C4551649
- •
- Congenital Abnormality
Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000).
Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006).
CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970).
Genetic Heterogeneity of Developmental Dysplasia of the Hip
Developmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21.
DDH3 (620690) is caused by mutation in the LRP1 gene (107770) on chromosome 12q13.
Midface retrusion- MedGen UID:
- 339938
- •Concept ID:
- C1853242
- •
- Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Tooth agenesis- MedGen UID:
- 869773
- •Concept ID:
- C4024202
- •
- Finding
The absence of one or more teeth from the normal series by a failure to develop
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Growth abnormality