Connective tissue disorder Flashcards
definition of connective tissue disorders
caused by the defective synthesis of type 1 collagen which is the major organic component of bone, tendons and connective tissue
why are connective tissue disorders a different entity to OI when they both affect type 1 cartilage
because OI predominantly affects bone whereas connective tissue disorders exclusivey affect soft tissue , but OI is actually a type of connective tissue disorder and a skeletal dysplasia
generalised (familial) joint laxity
common and occurs in 5% of the normal population causing hyper mobility, inherited autosomal dominantly
causes no problems apart from the fact that it predisposes individuals to soft tissue injuries and recurrent dislocations especially of the patella and shoulder
marfans syndrome
mutation of the fibrillin gene on chromosome 15 causing an abnormally tall stature with disproportionately long arms and legs and tendon laxity
marfans occular involvement
lens dislocation, glaucoma, retinal detachments
marfans mouth involvement
high arched palate
marfans lung involvement
spontaneous pneumothorax, ruptured pleural pleb, pacts excavatum and and pacts carinatum
marfans heart involvement
aortic regurgitation/ aneurysm/ dissection
mitral valve prolapse and regurgitation
general involvement of marfans
long arms and legs, scoliosis, arachynodactyly (fucking massive fingers
Ehlers dans syndrome definition
heterozygous autosomal dominantly inherited disease which causes abnormal production of collagen and elastic
Ehlers dans syndrome manifestation
joint hyper mobility and instability, increased skin elasticity, vascular fragility and easy bruising, occipital-atlas instability
MSK manifestations of downs syndrome
joint fragility with recurrent dislocations particularly of the femur, also can cause atlanto-axial instability in C spine
