Home Ehlers Danlos Syndrome (EDS): Arthrochalasia

Ehlers Danlos Syndrome (EDS): Arthrochalasia

Types

Defining Characteristics

Severe generalized hypermobility, congenital bilateral hip dislocation, tissue fragility and skin hyperextensibility

Disease Development

Mutation in collagen type I (COL1A1, COL1A2) causes abnormal processing of amino terminal ends

Risk factors

Autosomal dominant inheritance

Lab/Imaging

Clinical genetic testing