From HPO
Micromelia- MedGen UID:
- 10031
- •Concept ID:
- C0025995
- •
- Congenital Abnormality
The presence of abnormally small extremities.
Limb undergrowth- MedGen UID:
- 116086
- •Concept ID:
- C0239399
- •
- Finding
Limb shortening because of underdevelopment of one or more bones of the extremities.
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.
Fibular overgrowth- MedGen UID:
- 350389
- •Concept ID:
- C1864298
- •
- Finding
Relatively increased growth of the fibula compared to that of the tibia.
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.
Disproportionate short-limb short stature- MedGen UID:
- 342370
- •Concept ID:
- C1849937
- •
- Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Abdominal distention- MedGen UID:
- 34
- •Concept ID:
- C0000731
- •
- Finding
Distention of the abdomen.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Vertebral compression fracture- MedGen UID:
- 75497
- •Concept ID:
- C0262431
- •
- Finding
Vertebral hypoplasia- MedGen UID:
- 87502
- •Concept ID:
- C0345394
- •
- Congenital Abnormality
Small, underdeveloped vertebral bodies.
Short ribs- MedGen UID:
- 98094
- •Concept ID:
- C0426817
- •
- Finding
Reduced rib length.
Spondyloepimetaphyseal dysplasia- MedGen UID:
- 609408
- •Concept ID:
- C0432211
- •
- Disease or Syndrome
An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.
Narrow greater sciatic notch- MedGen UID:
- 154353
- •Concept ID:
- C0566888
- •
- Finding
A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.
Lumbar hyperlordosis- MedGen UID:
- 263149
- •Concept ID:
- C1184923
- •
- Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Narrow vertebral interpedicular distance- MedGen UID:
- 318662
- •Concept ID:
- C1832598
- •
- Finding
A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.
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).
Metaphyseal irregularity- MedGen UID:
- 325478
- •Concept ID:
- C1838662
- •
- Finding
Irregularity of the normally smooth surface of the metaphyses.
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Joint hypermobility- MedGen UID:
- 336793
- •Concept ID:
- C1844820
- •
- Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Flared metaphysis- MedGen UID:
- 337976
- •Concept ID:
- C1850135
- •
- Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Bell-shaped thorax- MedGen UID:
- 351320
- •Concept ID:
- C1865186
- •
- Finding
The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.
Delayed epiphyseal ossification- MedGen UID:
- 351324
- •Concept ID:
- C1865200
- •
- Finding
Central vertebral hypoplasia- MedGen UID:
- 870234
- •Concept ID:
- C4024672
- •
- Anatomical Abnormality
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Hoarse voice- MedGen UID:
- 5602
- •Concept ID:
- C0019825
- •
- Sign or Symptom
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
Thin vermilion border- MedGen UID:
- 108294
- •Concept ID:
- C0578038
- •
- Finding
Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the voice
- Growth abnormality