Ehlers-Danlos Syndrome (EDS)

-name given to over 10 different inherited disorders involving a genetic defect in collagen and connective-tissue synthesis and structure

easy bruising, joint hypermotility (loose joints), skin that stretches easily (skin hyperelasticity or laxity), weakness of tissues, abnormal scarring, fatigue, and pain

Types I & II : 15% autosomal dominant Collagen V defect -joint hypermobility, skin hyperextensibility, fragility -smooth velvety skin tears or bruises easily with minor trauma -joint dislocations and scoliosis common

Type III : 70% autosomal dominant Tenascin-X deficiency -joint hypermobility major problem; any joint affected and dislocations are frequent -often develop severe osteoarthritis

Type IV: 6% autosomal dominant Type III Collagen defect -more serious, life threatening -blood vessels and bowel prone to tearing (rupture) -characteristic facial appearance (large eyes, small chin, thin nose and lips, lobeless ears, small stature, slim build, thin/pale/translucent skin)

Type VI: autosomal recessive Deficiency of Lysylhydroxylase (PLOD)- collagen modifying enzyme -rare -joint laxity and severe muscle hypotonia at birth -hypotonia can be pronounced and lead to delayed gross motor development -progressive scoliosis at birth

can touch the tip of the nose with the tongue -half of Ehlers-Danlos pts. can do this

the white of the eyes are blue meaning the sclera is thin and you can see the darkness of the choroid coming through -typically associated with inherited connective tissue disorders such as: Osteogenesis imperfecta, Ehlers-Danlos Syndrome, Marfan's Syndrome, Iron deficiency anemia

-joint bracing to help hold the joints together -physical therapy to help tighten the joints overall these people have much higher pain levels even when not associated with joints

\"cigarette paper\" scars -thin, fragile scars look like crumpled cigarette paper -scarring is problematic because the skin is very thin so in surgery the skin won't hold stitches together