Smith-Lemli-Opitz syndrome is a rare metabolic disease in which the body does not make enough cholesterol. This rare disease develops ...…
Read MoreGenetic diseases
Usher syndrome is a rare genetic disease characterized by hearing loss and progressive dysfunction of the eyesight. Ultimately it leads to c ...…
Read MoreTAR syndrome is a rare, inherited disease of the blood and bones. A child with TAR is born without a radius and with a low number of platelets (thrombocytopenia ...…
Read MoreMaple syrup disease (MSUD) is a condition in which the body fails to break down three proteins - leucine, isoleucine and valine. As a consequence, these proteins ...…
Read MoreMayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a congenital absence or underdevelopment of the uterus and vagina. Patients with MRKH syndrome cannot have vaginal intercourse ...…
Read MoreGaucher disease is a rare genetic disease that can lead to dysfunction of the liver and spleen, as well as skeletal and nervous systems, making it impossible to ...…
Read MoreFat swelling, or lipoedema, is a disease involving the subcutaneous tissue, and consists in symmetrical, disproportionate accumulation of excessive amounts of tissue ...…
Read MoreGitelman syndrome is an inherited, congenital kidney disease. It is a condition that is usually mild. It does not affect the patient's life expectancy or functional ...…
Read MoreHello! I am 38 years old, six months ago my dad died of colorectal cancer, his father died of cirrhosis of the liver. From mom's side, my grandmother died of liver cancer, and s ...…
Read MoreWhy is it possible that parents have Rh + blood and Rh children?…
Read MoreMy boyfriend has been feeling bad for a long time. He's dizzy, as…
Read MoreBartek Bułat was born with tibial hemimelia - a congenital lack of a tibia. Doctors initially suggested the parents amputate, but Dr. Dror Paley of The Pa ...…
Read MoreGene inheritance is a complicated matter. It is known that at the moment of conception, a decision is made about many of the child's characteristics. Genes decide what eye color or skin color ...…
Read MoreHello! I am the mother of a 6-year-old suffering from phenylketonuria. After a long struggle, we finally got a genetic test and therefore I have a question. At my ...…
Read MoreWhat is the mechanism of Fuchs dystrophy and how is it treated?…
Read MoreHeterochromia is an extremely rare defect that affects approximately 1 percent of the population. It consists in a different position of the dye on at least two parts of the iris of one ...…
Read MorePompe disease is a rare, genetically determined metabolic disease in which the body does not break down glycogen into glucose. As a consequence, glycogen ...…
Read MoreNeurofibromatosis (neurofibromatosis) is an incurable genetic disease included in the group of phacomatoses. The symptoms of neurofibromatosis vary, but ...…
Read MorePhenylketonuria is an inherited metabolic disease. It consists in an abnormal transformation of one of the amino acids - phenylalanine. In the treatment of phenylketonuria bard ...…
Read MoreMucopolysaccharidosis (MPS) is a rarely diagnosed, genetic metabolic disease that damages many organs, and thus -...…
Read MoreGalactosemia is a rare genetic disorder that results from the body's inability to convert galactose into glucose. As a result of this dysfunction, in galactosemia ...…
Read MoreWolf-Hirschhorn syndrome is a group of birth defects that consists of a complex group of conditions. Due to the fact that they are characteristic, this rare genetic disease ...…
Read MoreAlkaptonuria (protection) is a disease in which the body does not break down two amino acids - phenylalanine and tyrosine. As a consequence, the product of their transformations ...…
Read MoreWilson's disease is a rare but very dangerous metabolic disease. In its course, copper, which accumulates in excess in the body, damages the brain and the ...…
Read MoreAbetalipoproteinemia (Bassen-Kornzweig syndrome) is a genetically determined metabolic disease in which fat absorption is impaired ...…
Read MoreZellweger syndrome (ZS) - also known as the cerebrohepatorenal syndrome, is a rare metabolic disease resulting from dysfunction of the human body ...…
Read MoreKrabbe's disease (globoid leukodystrophy) is a little known, very rare genetic disease that mainly affects the peripheral and central nervous system. Classes ...…
Read MoreCystinosis is a rare but very dangerous metabolic disease. In its course, the amino acid cystine accumulates in excess in the body. Damages l ...…
Read MoreMethylmalonic acidosis is a metabolic disorder in which the body does not break down certain proteins and fats properly. Consequently, the substance with ...…
Read MoreHunter's syndrome, or mucopolysaccharidosis type II, is a rare genetic metabolic disease. Hunter's syndrome stands out among other types of muk ...…
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