a hereditary disorder leading to a defect in elastic fibers.
a rare genetic disorder that affects connective tissue, leading to abnormalities of joints, bones, tendons, ligaments, arteries, and/or the heart
an autosomal dominant disease characterized by elongated bones (especially of limbs and digits) and abnormalities of the eyes and circulatory system
Connective tissue disorder with a strong hereditary basis with characteristic skeletal, cardiovascular and ocular disorders. Caused by a mutation onchromosome 15 in gene encoding for fibrillin, an elastin-matrix protein.
This is an inherited condition of collagen tissue which may have minimal or even advantageous affects on the individual. At its extreme, it can be life threatening. As far as work related upper limb disorders are concerned laxjoints (doublejoints) may be present in those of unusually tall build, possessed of an arm spread greater than their height, which can lead to joint and posture problems. Marfan's is probably the term given to an extensive family including many different types of collagen disorders.
an inherited disorder in which affected individuals have abnormal lengthening of their fingers and toes, as well as eye and heart problems.
A human disorder of the connective tissue expressed as a range of symptoms, including very long limbs and digits, and heart defects; inherited as an autosomal dominant phenotype. Mutations in a gene called fibrillin.