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Multiple exostoses with spastic tetraparesis

MedGen UID:
371889
Concept ID:
C1834724
Disease or Syndrome
Synonyms: Hamann Zanki schimrigk syndrome; Spasticity multiple exostoses
 
Monarch Initiative: MONDO:0008020
OMIM®: 158345

Clinical features

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%).

Recent clinical studies

Diagnosis

Tully RJ, Pickens J, Oro J, Levine C
J Comput Assist Tomogr 1989 Mar-Apr;13(2):330-3. doi: 10.1097/00004728-198903000-00029. PMID: 2784452

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