Disease: Adducted thumb syndrome recessive form
- CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome
- Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase
- Frank-ter Haar syndrome with unusual clinical features
- Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome
- Musculocontractural 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