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Protuberances at ends of long bones

MedGen UID:
342003
Concept ID:
C1851418
Finding
HPO: HP:0003105

Definition

The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProtuberances at ends of long bones

Conditions with this feature

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%).
Exostoses, multiple, type 2
MedGen UID:
377018
Concept ID:
C1851413
Disease or Syndrome
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%).

Recent clinical studies

Clinical prediction guides

Stickens D, Brown D, Evans GA
Dev Dyn 2000 Jul;218(3):452-64. doi: 10.1002/1097-0177(200007)218:3<452::AID-DVDY1000>3.0.CO;2-P. PMID: 10878610

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