| Disease ID | Source | Name | Description |
| 178110 | OMIM | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (CPSFS1A) | An autosomal dominant disease characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported. The disease is caused by variants affecting the gene represented in this entry. |
| 618469 | OMIM | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (CPSFS1B) | An autosomal recessive disease characterized by contractures affecting proximal and distal joints, vertebral fusions and scoliosis, carpal and tarsal fusions as well as webbing of the skin (pterygium) involving the neck, elbows, fingers, and/or knees. Other features include facial dysmorphism, short neck, and absent finger flexion creases. Inter- and intrafamilial variability has been observed. The disease is caused by variants affecting the gene represented in this entry. |
| 193700 | OMIM | Arthrogryposis, distal, 2A (DA2A) | A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and a H-shaped dimple of the chin. The disease is caused by variants affecting the gene represented in this entry. |
| 618436 | OMIM | Arthrogryposis, distal, 2B3 (DA2B3) | A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B3 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |