Diagnosis is not the end, but the beginning of practice - Martin H. Fischer
|Marfan Syndrome||Loeys-Dietz Syndrome||Ehlers-Danlos Syndrome (EDS||Stickler Syndrome|
|Cause||Mutation of fibrillin-1 gene (FBN1) on chromosome 15.||Mutations in several different genes, including COL5A1, COL5A2, COL1A1, COL3A1, TNXB, PLOD1, COL1A2, FKBP14 and ADAMTS2.||Mutation in Type I Collagen causes classical Ehlers-Danlos syndrome. Mutation in Type III Collagen causes vascular EDS with weak aorta.||Mutations over the entire COL2A1 gene on chromosome 12q13.11, which is involved in the formation of collagen — one of the building blocks of many types of connective tissues. This type of collagen most commonly affected is that used to produce joint cartilage.|
|Incidence||1 in 3,000||Less than 1 in 100,000||1:30,000||1-3 per 10,000 (true prevalence is hard to determine as the condition is highly under-diagnosed)|
|Skeletal Signs||Of the typical signs: tall stature (increased arm-to-height ratio) arachnodactyly (A condition in which the fingers and toes are abnormally long and thin in proportion to the palm of the hand/sole of the foot); joint hypermobility; scoliosis; pectus deformity; flat feet.||Of the typical signs: premature fusion of the skull bones (craniosynostosis); scoliosis; a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum); an inward- and upward-turning foot (club foot); flat feet or elongated limbs with joint deformities called contractures that restrict the movement of certain joints; dural ectasia; malformation or instability of the spinal bones; osteoarthritis.||Of the typical signs: joint hypermobility; loose, unstable joints that dislocate easily.||Of the typical signs: hypermobility; arthritis; mid-facial flatness; small, receding chin; palatal abnormalities including cleft lip and palate|
|Skin Features||Amongst the typical features: hyperextensible skin; striae (stretch marks).||Amongst the typical features: easy bruising; wide scars; soft skin texture; translucent skin.||Amongst the typical features: thin hyperextensible skin; tissue fragility (easy bruising).|
|Cardiovascular Complications:||Potential complications include: blood vessel changes; cardiomyopathy (disease of the heart muscle that makes it harder for your heart to pump blood to the rest of your body); heart valve problems; arrhythmia; aortic root dilation; POTS (postural tachycardia syndrome.||Complications include:
high risk of aortic dissection or rupture at an early age.||One rare type of Ehlers-Danlos syndrome (vascular) is characterized by: arterial rupture at a young age; and in cardiac-valvular EDS there are severe progressive problems of the aortic and mitral valves; in the more common hypermobile EDS, problems that can occur are mild dilation of the aortic root (unlikely to progress and doesn’t usually require treatment); POTS (postural orthostatic tachycardia syndrome).||Potential complications include: mitral valve prolapse (the two valve flaps of the mitral valve don't close smoothly or evenly, but bulge (prolapse) upward into the left atrium. Mitral valve prolapse is also known as click-murmur syndrome.|
|Other Features:||Other features may include: myopia; ectopia lentis (dislocation of the crystalline lens of the eye); deep-set eyes; crowded teeth high-arch palate.||Other features may include: hypertelorism (widely spaced eyes); blue sclera (a bluish coloration of the whites of the eyes); allergies to food and elements in the environment; stomach and intestine problems, such as difficulty absorbing food.||Other features may include: myopia and retinal detachment; blue sclerae (whites of the eyes); lobeless ears (vascular EDS); organ rupture or prolapse; dental abnormalities.||Symptoms vary widely between those with Stickler syndrome and may include, amongst other characteristics:
For more information on the different conditions, see our Related Disorders resource.
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