| Disease ID | Source | Name | Description |
| 223800 | OMIM | Dyggve-Melchior-Clausen syndrome (DMC) | A rare autosomal recessive disorder belonging to the group of spondyloepimetaphyseal dysplasias. DMC is characterized by progressive short stature with short trunk dwarfism, microcephaly, protruding sternum, and psychomotor retardation. Radiological features include a platyspondyly with double vertebral humps, an epiphyso-metaphyseal dysplasia and lacy pelvis iliac crests. The disease is caused by variants affecting the gene represented in this entry. |
| 607326 | OMIM | Smith-McCort dysplasia 1 (SMC1) | 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. |