| Disease ID | Source | Name | Description |
| 271640 | OMIM | Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) | A bone disease characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Additional skeletal features include elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed. The disease is caused by variants affecting the gene represented in this entry. |
| 615349 | OMIM | Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2) | A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD2 is an autosomal recessive form characterized by an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin. The disease is caused by variants affecting the gene represented in this entry. |
| 609465 | OMIM | Al-Gazali syndrome (ALGAZ) | A severe disorder characterized by prenatal growth retardation, large joints contractures, camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. The transmission pattern of the disorder is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry. |