In the field of genetics, there are numerous genetic conditions that have been identified and studied. One such condition is a disease that is inherited in a dominant manner and is known as juvenile-onset atresia. This condition is characterized by the abnormal development or closure of certain body structures, such as the gastrointestinal tract or the ear. Individuals with juvenile-onset atresia may experience symptoms such as digestive problems or hearing loss.
Another genetic condition that is worth mentioning is epidermolysis, a group of disorders that affect the skin. Epidermolysis encompasses a range of subtypes, including epidermolysis bullosa simplex, dystrophic epidermolysis bullosa, and junctional epidermolysis bullosa. These conditions are characterized by the presence of fragile skin that is prone to blistering and tearing. In some cases, individuals with epidermolysis may also have problems with their nails, hair, and teeth.
Immunodeficiency is yet another genetic condition that can have serious consequences for individuals affected by it. In primary immunodeficiency, there is a dysfunction in the immune system which leaves the individual vulnerable to infections. This condition can manifest in various ways, such as increased susceptibility to bacterial, viral, or fungal infections, or the inability to mount an effective immune response. Individuals with primary immunodeficiency may require lifelong medical care and treatment.
One last genetic condition that will be discussed is Lesch-Nyhan syndrome. This is a rare genetic disorder that primarily affects males. It is characterized by the presence of neurological and behavioral symptoms such as self-injury, intellectual disability, and the development of involuntary movements. Lesch-Nyhan syndrome is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase, leading to the accumulation of uric acid in the body.