Ehlers-Danlos Syndrome, Kyphoscoliotic Type - Key Clinical Features

Major clinical features

• Friable, hyperextensible skin, thin scars, easy bruising
• Generalized joint laxity
• Severe muscle hypotonia at birth
• Progressive scoliosis, present at birth or within the first year of life
• Scleral fragility and rupture of the globe

Minor clinical features

• Widened, atrophic scars
• Marfanoid habitus
• Rupture of medium-sized arteries
• Mild to moderate delay of attainment of gross motor milestones

The presence of three major clinical features is highly suggestive of EDS, kyphoscoliotic form