Rare Diseases Congress 2018

                                                                      Argyria Argyria is a rare skin condition that can happen if silver builds up in your body over a long time. It results from prolonged contact with or ingestion of silver salts. It can turn your skin, eyes, nails, and internal organs a blue-gray color, particularly in areas of your body exposed to sunlight . The indications may begin in your mouth; along with your gums turning gray-brown. Silver may be stored within the skin either from industrial exposure or as a result of medications containing silver salts. As Argyria is a rare disease, it is unfamiliarity with this...

                                                Aarskog Syndrome Aarskog syndrome is a rare genetic condition, also known as faciogenital dysplasia characterized by short stature , hypertelorism, multiple facial, brachydactyly limb and genital abnormalities, shawl scrotum, Additionally, some types of cognitive disorders may occasionally be present, although there is wide ,phenotypic variability. Still now, the FGD1 gene on the X chromosome is the only gene known to be related with Aarskog disorder. Aarskog syndrome essentially influences males. Males have 1 X chromosome, the male child of a mother who having the hereditary defect will likely have Aarskog disorder. Males with Aarskog syndrome regularly have a rounded face with a wide forehead. Additional characteristic features incorporate broadly s...

                                                                     Buerger disease Buerger’s  disease ,  also  called thromboangiitis obliterans.  Buerger's  disease   is a  rare disease of the  arteries  and veins  in the  arms and legs;  it is an   inflammation   of   small - and medium-sized blood vessels. In this disease, your blood vessels become inflamed, swell and can become blocked with blood clots. The disease is found worldwide and can affect people of any race and age group. This  eventually   damages  or  destroys  skin tissues and may lead to  contamination  and gangrene. Buerger's  disease   usually   first   appears  in your hands and feet and may e...

                                                                                          Rare Neurological Disorders Creutzfeldt-Jakob disease  (CJD)  is a   rare , degenerative,  lethal  brain  disorder . CDJ is caused by an  infectious   agent  called prions that  results  in  rapid  degeneration of the host’s brain tissue. It  influences   around  one  individual  in every one million per year  worldwide ;  in the   United  States there are  approximately  350 cases per year.  CJD will have symptoms like ataxia, or d...

                                                  Rare Oral Diseases Rare Oral abnormalities are dysfunctions and diseases of oral tissues and dentition caused by defective genes. Many genetic oral diseases indicate more complex disorders and are linked to inherited traits and defects, or result from spontaneous genetic mutations. Appropriate formation of the skeleton and dentition requires integration of various processes starting in early embryonic development. These include patterning of the head, limbs, and dental elements, cell movement and expansion, separation to specialized cells, matrix secretion, bio mineralization of bones and teeth, and remodelling of bone. Types of Rare Oral Diseases 1. Hyperdontia:  This rare condition is affects approximately two percent of the population. In some cases, however, a person will grow extr...

                          Undiagnosed Rare Disease  Undiagnosed’ refers to a disease for which a diagnostic test isn't however accessible; the disease has not been characterised and the cause isn't however recognized. This patient can also be misdiagnosed as the condition can be mistaken for others. These conditions are too likely to be rare. Rare diseases affect an estimated 2-4% of the population. A likely next step is whole genome sequencing, a diagnostic technique that over the last decade has significantly bolstered the effort to identify undiscovered diseases. A different approach is to search for patients with similar hereditary abnormalities and similar side effects. Determining the cause of a disease is often a victory in its own right for people who’ve spent years trying to figure out what’s wrong with their bodies. For awareness among people we celebrated Rare undiagnosed Day on April 29...