| Disease ID | Source | Name | Description |
| 601776 | OMIM | Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) | A form of Ehlers-Danlos syndrome characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement. The disease is caused by variants affecting the gene represented in this entry. |