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GENATLAS PHENOTYPE
last update : 22-05-2018
Symbol ATCS
Location 15q15.1
Name adducted thumb-clubfoot syndrome
Other name(s)
  • Dundar syndrome
  • Ehlers-Danlos type VI B
  • Ehlers-Danlos syndrome, musculocontractural type 1
    • Corresponding gene CHST14
    Other symbol(s) EDS6B, EDSMC1
    Main clinical features
  • typical facial appearance, wasted build, thin and translucent skin, congenital contractures of thumbs and feet, joint instability, facial clefting, and coagulopathy, as well as heart, kidney, or intestinal defects
  • distal contractures, variable degree of congenital malformations, and normal cognitive development
  • new type of Ehlers-Danlos syndrome
  • disorder resulting from a defect specific to dermatan sulfate biosynthesis
    • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type malformation
    Remark(s)
  • CHST14 mutations abolish or decrease D4ST1 activity by early protein truncation and altered intracellular protein processing, resulting in a decrease of dermatan sulfate (DS), and increase of chondroitin sulfate (CS) in patient fibroblasts (PMID: 2000476)
  • DCN a key regulator of collagen fibril assembly, was completely lost and replaced by chondroitin sulfate (CS) in the patients' fibroblasts with mutation of CHST14, leading to decreased flexibility of GAG (glycosaminoglycan) chains (PMID: 20533528))