Ehlers-Danlos syndrome, musculocontractural type

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Ehlers-Danlos syndrome, musculocontractural type

A 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. 

Molecular pathology
Defects in CHST14, which encodes a sulfotransferase that generates chondroitin sulfate, cause Ehlers-Danlos syndrome musculocontractural type
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