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Items: 5

1.

SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME (1 family)

MedGen UID:
904653
Concept ID:
C4225519
Finding
2.

CHONDROSARCOMA, SOMATIC

MedGen UID:
865583
Concept ID:
C4017146
Finding
3.

Chondrosarcoma, sporadic

MedGen UID:
865582
Concept ID:
C4017145
Finding
4.

Multiple exostoses type 2

The disorder 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 of malignant degeneration is low (~1%). [from GTR]

MedGen UID:
377018
Concept ID:
C1851413
Disease or Syndrome
5.

Multiple congenital exostosis

The disorder 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 of malignant degeneration is low (~1%). [from GTR]

MedGen UID:
4612
Concept ID:
C0015306
Congenital Abnormality
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