ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (DOID:0111649)
Alliance: disease page
Synonyms: ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome; EEM syndrome; EEMS
Alt IDs: OMIM:225280, ORDO:1897
Definition: An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1.