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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