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6 Cards in this Set
- Front
- Back
Ehlers-Danlos Syndrome
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A disease of collagen types I, III, and V, and tenascin-X (a collagen associated protein). compromising structure/strength.
Symptoms include hyperextensible skin, poor wound healing, “cigarette paper” scarring, and joint hypermobility. AD, AR, or XL, depending on type. |
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Osteogenesis Imperfecta
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four types differing in severity and due to decreased Type I collagen in bone and consequent weak bone matrix structure.
Mutations in collagen genes: COL1A1 and COL1A2. “Brittle bone disease” is characterized by multiple fractures with no apparent trauma (often misidentified initially as child abuse), skeletal deformities, blue sclerae. AD |
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Marfan Syndrome
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Defective fibrillin protein (helps to organize collagen structure).
Associated with tall, thin people, often athletes. Clinical: aortic aneurisms (fatal aortic dissection), mitral valve prolapse, dislocated lenses, very long, thin bones of the digits and limbs, flat feet, scoliosis and breastbone deformation, joint hypermobility and a positive wrist/thumb sign |
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Mucopolysaccharidoses (MPSs)
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Lysosomal Storage Disorders due to Defective GAG Degradation
Recessive disorder w/ 10 Types: most common are Hurler syndrome (MPS type I) & Hunter syndrome (MPS II) |
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Hurler Syndrome
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MPS I. Deficiency of alpha-iduronidase, a lysosomal enzyme involved in degradation of dermatan sulfate and heparan sulfate
corneal clouding and a particular type of acute angular kyphoscoliosis (combined outward and lateral spinal curvature), and "gargoylism"- stooped stature and coarse facies, corneal clouding, macroglossia, cardiomyopathy |
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Hunter Syndrome
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X-linked disorder arising from deficiency of iduronate sulfatase (degrade heparan sulfate and dermatan sulfate)
Deafness is a distinguishing feature of Hunter syndrome, not associated with mental retardation, and no corneal clouding. |