Basan Syndrome (BSNS)

Basan Syndrome, also known as adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and adermatoglyphia. An important gene associated with Basan Syndrome is SMARCAD1 (SWI/SNF-Related, Matrix-Associated Actin-Dependent Regulator Of Chromatin, Subfamily A, Containing DEAD/H Box 1), and among its related pathways/superpathways are AMPK Enzyme Complex Pathway and Chromatin Regulation / Acetylation. Affiliated tissues include skin and salivary gland, and related phenotypes are cutaneous syndactyly of toes and milia