| Disease ID | Source | Name | Description |
| 224410 | OMIM | Dyssegmental dysplasia Silverman-Handmaker type (DDSH) | The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage. The disease is caused by variants affecting the gene represented in this entry. |
| 255800 | OMIM | Schwartz-Jampel syndrome (SJS1) | Rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. The disease is caused by variants affecting the gene represented in this entry. |