gene mutation

Nicolaides-Baraitser Syndrome: Causes, Symptoms & Treatment

Nicolaides-Baraitser syndrome is a disease that affects only a small number of individuals. Nicolaides-Baraitser syndrome represents a congenital disorder that consequently exists in affected individuals from birth. Some symptoms only become apparent with increasing age. The leading symptoms of Nicolaides-Baraitser syndrome include abnormalities of the fingers, short stature, and disturbances in the hairiness of the … Nicolaides-Baraitser Syndrome: Causes, Symptoms & Treatment

Antley-Bixler Syndrome: Causes, Symptoms & Treatment

Antley-Bixler syndrome is a genetically caused disorder whose incidence in the general population is relatively low. The commonly used abbreviation for the disorder is ABS. To date, approximately 50 cases of the disease are known and described in individuals. Basically, Antley-Bixler syndrome appears equally in men and women. What is Antley-Bixler syndrome? Antley-Bixler syndrome got … Antley-Bixler Syndrome: Causes, Symptoms & Treatment

Antithrombin Deficiency: Causes, Symptoms & Treatment

Antithrombin deficiency is a congenital hereditary disease. It increases the likelihood of thrombosis occurring. The deficiency also causes a decrease in concentration as well as activity. What is antithrombin deficiency? Congenital antithrombin deficiency was first described by Olav Egeberg in 1965. Antithrombin is a glycoprotein that has an inhibitory effect on blood clotting. It is … Antithrombin Deficiency: Causes, Symptoms & Treatment

Malformation Syndrome: Causes, Symptoms & Treatment

Malformation syndrome refers to various congenital malformations. Several organ systems are affected, which are conspicuous by multiple dysfunctions. The diagnosis can often be made in the womb. What is malformation syndrome? Malformation syndrome is a very rare condition. Nevertheless, it has a broad appearance. The syndrome is a combination of multiple malformations. Several organs of … Malformation Syndrome: Causes, Symptoms & Treatment

Paroxysmal Nocturnal Hemoglobinuria: Causes, Symptoms & Treatment

Paroxysmal nocturnal hemoglobinuria (PNH) represents a rare and severe disorder of hematopoietic cells that is genetic but acquired later in life. Because it is a somatic mutation, germ cells are not affected. If left untreated, the disease can be fatal mainly due to the development of multiple thromboses. What is paroxysmal nocturnal hemoglobinuria? Paroxysmal nocturnal … Paroxysmal Nocturnal Hemoglobinuria: Causes, Symptoms & Treatment

Onychauxis: Causes, Symptoms & Treatment

Onychauxis is a disease that affects the nails of fingers and toes. The name of the disease is derived from the Greek language, where it comes from the terms ‘onyx’ for fingernail and ‘auxano’ for proliferation. Onychauxis is present in affected individuals either from birth or is acquired during the rest of life due to … Onychauxis: Causes, Symptoms & Treatment

Joubert Syndrome: Causes, Symptoms & Treatment

Joubert syndrome is characterized by a congenital malformation of the brain stem as well as agenesis (inhibition malformation, lack of attachment, for example, cerebral bar, vermiform appendix). There may also be hypoplasia (underdevelopment) of the cerebellar vermis. Patients suffering from this autosomal recessive genetic defect exhibit abnormal respiratory behavior and ataxia, among other symptoms. What … Joubert Syndrome: Causes, Symptoms & Treatment

Keratosis Follicularis Spinulosa Decalvans: Causes, Symptoms & Treatment

Keratosis follicularis spinulosa decalvans is a congenital disease of the skin. Keratosis follicularis spinulosa decalvans is inherited and occurs extremely rarely. Sometimes the disease is referred to as Siemens I syndrome or keratosis pilaris decalvans. Keratosis follicularis spinulosa decalvans was first described by Lameris in 1905. What is keratosis follicularis spinulosa decalvans? Keratosis follicularis spinulosa … Keratosis Follicularis Spinulosa Decalvans: Causes, Symptoms & Treatment

Congenital Hypothyroidism: Causes, Symptoms & Treatment

Congenital hypothyroidism is a form of hypothyroidism. It is caused by a disorder during embryonic development. What is congenital hypothyroidism? Congenital hypothyroidism is a form of hypothyroidism. In medicine, congenital hypothyroidism also goes by the name connatal hypothyroidism or congenital hypothyroidism. It is a special form of hypothyroidism. We talk about hypothyroidism when the thyroid … Congenital Hypothyroidism: Causes, Symptoms & Treatment