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Scapular exostoses

MedGen UID:
377019
Concept ID:
C1851415
Finding; Neoplastic Process
Synonym: Scapulae exostoses
 
HPO: HP:0000918

Definition

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. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVScapular exostoses

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%).
Langer-Giedion syndrome
MedGen UID:
6009
Concept ID:
C0023003
Disease or Syndrome
Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Both types of TRPS are characterized by distinctive facial features; ectodermal features (fine, sparse, depigmented, and slow growing hair; dystrophic nails; and small breasts); and skeletal findings (short stature; short feet; brachydactyly with ulnar or radial deviation of the fingers; and early, marked hip dysplasia). TRPS II is characterized by multiple osteochondromas (typically first observed clinically on the scapulae and around the elbows and knees between ages 1 month and 6 years) and an increased risk of mild-to-moderate intellectual disability.
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%).

Professional guidelines

PubMed

Clement ND, Porter DE
Scott Med J 2014 Feb;59(1):35-44. Epub 2014 Jan 10 doi: 10.1177/0036933013518150. PMID: 24413927

Recent clinical studies

Etiology

Clement ND, Ng CE, Porter DE
J Shoulder Elbow Surg 2011 Mar;20(2):290-4. Epub 2010 Nov 24 doi: 10.1016/j.jse.2010.07.020. PMID: 21106401

Diagnosis

Clement ND, Ng CE, Porter DE
J Shoulder Elbow Surg 2011 Mar;20(2):290-4. Epub 2010 Nov 24 doi: 10.1016/j.jse.2010.07.020. PMID: 21106401

Prognosis

Clement ND, Ng CE, Porter DE
J Shoulder Elbow Surg 2011 Mar;20(2):290-4. Epub 2010 Nov 24 doi: 10.1016/j.jse.2010.07.020. PMID: 21106401

Clinical prediction guides

Clement ND, Ng CE, Porter DE
J Shoulder Elbow Surg 2011 Mar;20(2):290-4. Epub 2010 Nov 24 doi: 10.1016/j.jse.2010.07.020. PMID: 21106401

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