Ehlers-Danlos syndrome musculocontractural type (EDSMC) is an autosomal recessive disorder characterized by connective tissue fragility, craniofacial abnormalities, congenital contractures, and developmental anomalies. EDSMC is caused by mutations in CHST14, encoding dermatan 4-O-sulfotransferase-1 (D4ST1). Recently, mutations in DSE, encoding dermatan sulfate epimerase-1, have been identified in a child with EDSMC features.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD28 Syndromes with connective tissue involvement as a major feature
H02246 Ehlers-Danlos syndrome musculocontractural type
Pathway-based classification of diseases [BR:br08402]
Glycan/glycoprotein metabolism
nt06029 Glycosaminoglycan biosynthesis
H02246 Ehlers-Danlos syndrome musculocontractural type
Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns-Le T, Van Laer L, De Paepe A
Title
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.
