Dyggve-Melchior-Clausen syndrome is a rare autosomal-recessive disorder, the gene for which maps to chromosome 18q21.1.
The gene implicated in the disorder is Dymeclin, which may have a role in process of intracellular digestion of proteins.
El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni
C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire
V. (2003). Mutations in a novel gene Dymeclin (FLJ20071) are responsible for
Dyggve-Melchior-Clausen syndrome. Hum Mol Genet 2003 Feb 1;12(3):357-364
2) OMIM citation
Last reviewed 01/2018