| Disease ID | Source | Name | Description |
| 613573 | OMIM | Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) | A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSS1 is characterized by the association of hair and teeth abnormalities with cutaneous syndactyly of the hands and/or feet. Hair morphologic abnormalities include twists at irregular intervals (pilli torti) and swelling along the shafts, particularly associated with areas of breakage. Dental findings consist of abnormally widely spaced teeth, with peg-shaped and conical crowns. Patients have normal sweating. The disease is caused by variants affecting the gene represented in this entry. |