Home Ehlers Danlos Syndrome (EDS): Kyphoscoliosis

Ehlers Danlos Syndrome (EDS): Kyphoscoliosis


Defining Characteristics

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

Disease Development

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

Potential Causes

Decreased lysyl hydroxylase

Risk factors

Autosomal recessive inheritance


Clinical genetic testing