| Disease ID | Source | Name | Description |
| 156500 | OMIM | Schmid type metaphyseal chondrodysplasia (SMCD) | Dominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end-plate irregularity. The disease is caused by variants affecting the gene represented in this entry. |