From HPO
Chondrosarcoma- MedGen UID:
- 3054
- •Concept ID:
- C0008479
- •
- Neoplastic Process
A slowly growing malignant neoplasm derived from cartilage cells.
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 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.
Madelung-like forearm deformities- MedGen UID:
- 342004
- •Concept ID:
- C1851419
- •
- Finding
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.
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).
Cervical myelopathy- MedGen UID:
- 57691
- •Concept ID:
- C0149645
- •
- Disease or Syndrome
A collection of pathologic conditions that result from progressive spinal cord dysfunction secondary to cord compression in the cervical spine.
Peripheral nerve compression- MedGen UID:
- 343565
- •Concept ID:
- C1851414
- •
- Finding
Multiple congenital exostosis- MedGen UID:
- 4612
- •Concept ID:
- C0015306
- •
- Congenital Abnormality
Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%).
Rib exostoses- MedGen UID:
- 322689
- •Concept ID:
- C1835579
- •
- Finding
Multiple circumscribed bony excrescences located in the ribs.
Pelvic bone exostoses- MedGen UID:
- 335004
- •Concept ID:
- C1844689
- •
- Neoplastic Process
A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.
Scapular exostoses- MedGen UID:
- 377019
- •Concept ID:
- C1851415
- •
- Neoplastic Process
The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.
Protuberances at ends of long bones- MedGen UID:
- 342003
- •Concept ID:
- C1851418
- •
- Finding
The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality
- Neoplasm