A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| NEK9-related lethal skeletal dysplasia | MONDO:0014870 | NEK9 | |
| Fetal akinesia-cerebral and retinal hemorrhage syndrome | MONDO:0014149 | DNM2 | |
| Lethal congenital contracture syndrome 1 | MONDO:0009670 | GLE1 | |
| Lethal congenital contracture syndrome 11 | MONDO:0014965 | GLDN | |
| Lethal congenital contracture syndrome 12 | MONDO:0981031 | DST | |
| Lethal congenital contracture syndrome 2 | MONDO:0011868 | ERBB3 | |
| Lethal congenital contracture syndrome 3 | MONDO:0012656 | PIP5K1C | |
| Lethal congenital contracture syndrome 4 | MONDO:0013965 | MYBPC1 | |
| Lethal congenital contracture syndrome 6 | MONDO:0014549 | ZBTB42 | |
| Lethal congenital contracture syndrome 7 | MONDO:0014569 | CNTNAP1 | |
| Lethal congenital contracture syndrome 8 | MONDO:0014570 | ADCY6 | |
| Lethal congenital contracture syndrome 9 | MONDO:0014670 | ADGRG6 |
Rare disease
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