| Disease ID | Source | Name | Description |
| 604536 | OMIM | Ectodermal dysplasia-skin fragility syndrome (EDSFS) | A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails. There is no evidence of significant abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions. The disease is caused by variants affecting the gene represented in this entry. |