Genetic diseases 2024, December

I am hearing impaired because the doctors gave me drugs when I was 2 weeks old, I could have died without these drugs. I have a damaged auditory nerve because of it. My hearing loss ...…

After 2 miscarriages (both in the 9th week of pregnancy, the heartbeat that had previously been heard has stopped) it is necessary to test for mutations (factor V Leiden, ...…

I'm already 18 weeks pregnant and I know that it is the last call for an invasive test called amniopuncture. I got pregnant with my cousin, that is our o ...…

Is it possible to grow more than the growth potential stored in your genes? Can I make my body grow when GH is normal? I know the diet has ...…

Hyperammonaemia means elevated levels of ammonia in the blood. This is when symptoms such as confusion, confusion and sleepiness appear, or vice versa - agitation ...…

Axenfeld-Rieger syndrome is a genetic disease that damages the organ of vision, specifically the front part of the eye. As it develops, usually ...…

Job's syndrome, or hyper-IgE syndrome, is a rare disease of genetic origin resulting in immunodeficiency. People with Job's syndrome are characterized by sp ...…

Auto-brewery syndrome is a disease in which the patient experiences episodes of intoxication ... without consuming any amount of alcohol. What can this state do ...…

Trimethylaminuria is a condition whose colloquial name can even arouse laughter - it is referred to as the fish odor syndrome. A characteristic transition ...…

Moyamoya disease is a very rare disease. This intriguing name hides a progressive and incurable disease ...…

Ectodermal dysplasia is a genetic disease in which there is abnormal development of teeth, hair, nails and skin glands. Dysplasia ...…

Kallmann syndrome is the most common form of isolated gonadotropin deficiency. The disease runs in families, usually in several of its male representatives. Lecze ...…

Polyglutamine diseases are a group of incurable rare genetic diseases that lead to the death of cells in the brain. The most famous Hunting chorea ...…

Weaver-Williams syndrome (Weaver-Smith syndrome) is a very rare birth defect syndrome discovered in 1974 by David D. Weaver. J ...…

Hypertrichosis, or werewolf syndrome, is a genetic disorder that manifests itself in excessive body hair. In the affected person, hair is abundant ...…

Lewandowsky-Lutz Dysplasia is a genetically determined skin disease in the course of which changes appear on the body that resemble the bark of a tree ...…

Schinzel-Giedion syndrome is a genetically determined syndrome of birth defects. The Schinzel-Giedion syndrome is characterized by, inter alia, severe mental retardation, ...…

Morquio disease, or mucopolysaccharidosis type IV (MPS IV), is a rare disease with a genetic background belonging to the group of mucopolysaccharidoses. The cause of ch ...…

Apert syndrome is one of the rarest diseases caused by a genetic mutation. In Poland, 2 or 3 children are born each year with Aperta syndrome, c ...…

Spermatogenesis is a process leading to the formation of male reproductive cells with a reduced amount of genetic material and a reduced number of chromos ...…

Dandy-Walker syndrome is a complex developmental defect of the central nervous system, which is mainly related to incomplete education of the cerebellar worm. In ...…

Toenail-patella syndrome is a rare genetic disorder that results in a person suffering from deformed or missing nails. In addition, lic ...…

Saturday morning, Mokotów in Warsaw. Peace and quiet on the streets - there is a weekend atmosphere - completely different than the one that dominates the busy capital every day. In ...…

Williams syndrome is a group of genetic defects caused by a mutation within chromosome 7. It was described in 1961 by the New Zealand cardiologist J. C. P. Williams. ...…

Cockayne syndrome (Neill-Dingwall syndrome) is a rare autosomal recessive multi-system disorder caused by a defect ...…

Congenital analgesia is a disease in which the patient does not feel pain stimuli. In theory it might seem a favorable state, in practice it is ...…

Progeria (Greek, premature old age) is a rare disease involving the extremely rapid aging of the body. This is also the explanation of her coming ...…

Dyslexia means that at school they are usually accused of laziness, punished with lower grades, and constantly criticized. Meanwhile, dyslexics need professional help. No ...…

Pierre Robin syndrome is a syndrome of craniofacial congenital abnormalities, which results from an abnormal development of the mandible in the embryo's embryonic period. Both ...…

Hemosiderosis (aka Ceelen-Gellerstedt syndrome) is a rare storage disease of unknown etiology. It is characterized by a triad of symptoms: hemoptysis, ur ...…