Home Ehlers Danlos Syndrome (EDS): Kyphoscoliosis

Ehlers Danlos Syndrome (EDS): Kyphoscoliosis

Classical , Hypermobility , Arthrochalasia , Vascular , Dermatosparaxis

Generalized joint laxity, severe hypotonia and scoliosis at birth, scleral fragility, rupture of ocular globe

Mutation in PLOD1 causes decreased lysyl hydroxylase in dermis and loss of connective tissue cross-linking capabilities

Decreased lysyl hydroxylase

Autosomal recessive inheritance

Clinical genetic testing

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