| Disease ID | Source | Name | Description |
| 615222 | OMIM | Smith-McCort dysplasia 2 (SMC2) | A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest. The disease is caused by variants affecting the gene represented in this entry. |