Classic inherited diseases are caused by a single gene mutation, often with serious consequences for the organism, but are fortunately rare. Acquired diseases, on the contrary, are due to environmental factors. However, many of the most prevalent diseases are actually the result of the combination of hereditary and environmental factors. Many common disorders such as osteoporosis, arthritis, di...

Introduction Human Autoinflammatory Diseases (HADs) is a heterogeneous group of rare genetic diseases, which are characterized by unprovoked onsets of inflammation, fever and clinical symptoms analogous with rheumatic diseases with absence of immunological indicators. Familial Mediterranean Diseases (FMF) is one of the popular forms in the group of syndromes which are called HPFS. Clinical char...

Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does however not always have to be caused by angioedema but can relate to other concomitant disorders. In th...

In this article the major genetic disorders and the modes of their transmission is discussed. We have also briefly mentioned the modalities by which many of the genetic diseases can be detected before birth. The genetic counselling is helpful in many ways in order to advise the parents for keeping the fetus or terminating the pregnancy. The physician can reduce the anxiety of the parents, but t...

Splenomegaly, sometimes of massive extent, occurs in a large number of hereditary diseases, some relatively prevalent and others, rare to ultra-rare. Because physicians are often unfamiliar with the less common disorders, patients may suffer because of diagnostic delay or diagnostic error and may undergo invasive, non-innocuous procedures such as splenectomy that are potentially avoidable were ...