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Adducted thumb and clubfoot syndrome

  1. Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome".
  2. Musculo-contractural Ehlers-Danlos syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
  3. Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase.
  4. Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.
  5. A case with adducted thumb and club foot syndrome.