Ehlers-Danlos syndrome—musculocontractural type 1

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Ehlers-Danlos syndrome—musculocontractural type 12016-11-25T19:11:57+00:00

Ehlers-Danlos syndrome—musculocontractural type 1

GENETICS

A form of Ehlers-Danlos syndrome (OMIM:601776) which is 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 

Synonyms Adducted thumb—clubfoot—and progressive joint and skin laxity syndrome, adducted thumb-clubfoot syndrome, arthrogryposis—distal—with peculiar facies and hydronephrosis, Dundar syndrome, Ehlers-Danlos syndrome—type VIB, Ehlers-Danlos syndrome—type 6B 

References http://www.uniprot.org/uniprot/Q8NCH0À

http://www.omim.org/entry/601776

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