| Disease ID | Source | Name | Description |
| 225500 | OMIM | Ellis-van Creveld syndrome (EVC) | An autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. The disease is caused by variants affecting the gene represented in this entry. |
| 193530 | OMIM | Acrofacial dysostosis, Weyers type (WAD) | An autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome. The disease is caused by variants affecting the gene represented in this entry. |