From HPO
Spastic tetraparesis- MedGen UID:
- 658719
- •Concept ID:
- C0575059
- •
- Disease or Syndrome
Spastic weakness affecting all four limbs.
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%).
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system