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Schmid type metaphyseal chondrodysplasia; includes: spondylometaphyseal dysplasia Japanese type
Pathology:
- disorder of the osseous skeleton
Genetics:
- autosomal dominant
- associated with defects in COL10A1
Clinical manifestations:
- mild short stature
- coxa vara
- waddling gait
- variant form: spondylometaphyseal dysplasia Japanese type with spinal involvement comprising
- mild platyspondyly
- vertebral body abnormalities
- end-plate irregularity
Radiology:
- radiograph usually shows
- sclerosis of the ribs
- flaring of the metaphyses
- a wide irregular growth plate, especially of the knees
General
osteochondrodysplasia
Database Correlations
OMIM 156500
References
OMIM :accession 156500