| Disease ID | Source | Name | Description |
| 272460 | OMIM | Spondylocarpotarsal synostosis syndrome (SCT) | Disorder characterized by short stature and vertebral, carpal and tarsal fusions. The disease is caused by variants affecting the gene represented in this entry. |
| 112310 | OMIM | Boomerang dysplasia (BOOMD) | A perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae. Patients manifest dwarfism with short, bowed, rigid limbs and characteristic facies. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralization, with complete absence of ossification in some limb elements and vertebral segments. The disease is caused by variants affecting the gene represented in this entry. |
| 108720 | OMIM | Atelosteogenesis 1 (AO1) | A lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the mid-thoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes which are encapsulated in fibrous tissue. The disease is caused by variants affecting the gene represented in this entry. |
| 108721 | OMIM | Atelosteogenesis 3 (AO3) | A short-limb lethal skeletal dysplasia with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations. Recurrent respiratory insufficiency and/or infections usually result in early death. The disease is caused by variants affecting the gene represented in this entry. |
| 150250 | OMIM | Larsen syndrome (LRS) | An osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication. The disease is caused by variants affecting the gene represented in this entry. |