Classical

defining characteristics

Skin & joint hypermobility (Beighton’s score >5 for joints), atrophic scarring (not well healed), easy bruising, smooth/velvety skin, hypotonia & decreased motor development

disease development

Mutation in collagen type V (COL5A1, COL5A2), disrupting structural integrity of connective tissues

potential causes

epidemiology

1/5000 individuals; classical form is most common

risk factors

Autosomal dominant

labimaging

Clinical exam for manifestations Beighton score
baseline echocardiogram for kids <10 y.o. Evaluate clotting factors

conventional treatment

Tx manifesting sx
Low-resistance exercise to increase muscle tone
Vit. C & D, Ca supplem Avoid high impact force

complications

prevention

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protocols