| Disease ID | Source | Name | Description |
| 253310 | OMIM | Lethal congenital contracture syndrome 1 (LCCS1) | A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). 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. LCCS1 patients manifest early fetal hydrops and akinesia, micrognathia, pulmonary hypoplasia, pterygia, and multiple joint contractures. It leads to prenatal death. The disease is caused by variants affecting the gene represented in this entry. |
| 611890 | OMIM | Congenital arthrogryposis with anterior horn cell disease (CAAHD) | An autosomal recessive disorder characterized by fetal akinesia, arthrogryposis and motor neuron loss. The fetus often survives delivery, but dies early as a result of respiratory failure. Neuropathological findings resemble those of lethal congenital contracture syndrome type 1, but are less severe. The disease is caused by variants affecting the gene represented in this entry. |