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All Tests Metaphyseal chondrodysplasia, Schmid type (MCDS)
All Tests Metaphyseal chondrodysplasia, Schmid type (MCDS)
Metaphyseal chondrodysplasia, Schmid type (MCDS)
Gene
COL10A1
MIM
156500
Clinical Description
Metaphyseal chondrodysplasia, Schmid type
Metaphyseal chondrodysplasia, Schmid type (MCDS; MIM 156500) is an autosomal dominant disorder caused by mutations in COL10A1. Bowing of the extremities, mild short stature and a waddling gait are evident at a young age. The patients may also have enlarged wrists and flaring of the rib cage. The phenotype of MCDS also overlaps with that of metaphyseal dysplasia without hypotrichosis (CHHV; MIM 250460).
Available Tests
The following test(s) are available for Metaphyseal chondrodysplasia, Schmid type (MCDS)
DNA Sequencing
Price:
$445
| CPT Codes: | 83890 | 83898 | 83894 | 83904 | 83912 |
| 1 | 4 | 4 | 5 | 1 | |
