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  • Diseases Last posts / authorNumber of posts

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      Marfan Syndrome

      Fibrillin is either abnormal or deficient, point mutations in fibrillin. Tall stature, long extremities and long and tapering fingers and toes; lower segment of the body, lax ligaments in hands and feed, dolichocephalic head with bossing of the frontal eminences and prominent supraorbital ridges, kyphosis, scoliosis, pectus excavatum, pigeon – breast deformity, bilateral subluxation or dislocation of the lens.
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      Ehlers- Danlos Syndrome

      Defect in collagen synthesis or structure. Hyperextensible and fragile skin, hypermobile joints; rupture of the colon and large arteries, ocular fragility with rupture of cornea and retinal detachment and diaphragmatic hernia.
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      Familial Hypercholesterolemia

      Mutation in the gene encoding the receptor for low-density lipoprotein (LDL). Tendinous xanthomas, premature atherosclerosis, myocardial infarction.
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      Tay-Sachs Disease

      Inability to catabolize GM2 gangliosides. Damage to nervous system, a cherry-red spot in the macula.
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      Niemann-Pick Disease

      Lysosomal accumulation of sphingomyelin and cholesterol. Protuberant abdomen, progressive failure to thrive, vomiting, fever, generalized lymphadenopathy.