Ehlers-Danlos syndrome, musculocontractural type(redirected from Ehlers-Danlos syndrome, type 6B)
Ehlers-Danlos syndrome, musculocontractural typeA form of Ehlers-Danlos syndrome (OMIM:601776) characterised by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement.
Defects in CHST14, which encodes a sulfotransferase that generates chondroitin sulfate, cause Ehlers-Danlos syndrome musculocontractural type
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