ICD
Congenital malformations, deformities and chromosome aberrations (27 contents)
What work can people with Down syndrome do?
Down syndrome is not a sentence and people with Down syndrome are able to lead productive and fulfilled lives, which includes being able to work. In this article, we will discuss what employment...
Cigarette smoking even before conception can affect the development of the child
It has been known for a long time that smoking cigarettes damages health. It is also well known that smoking cigarettes can have very dangerous consequences if a pregnant woman smokes. However, it...
Fragile X syndrome and its consequences
FragileX synd rome is classified as a rare disease with a genetic basis. The causes of the disease are still unknown - it is difficult to pinpoint what specifically contributes to the occurrence of...
Retroverted uterus - causes, symptoms, pregnancy and birth
Retroverted uterus is a rather frightening sounding term, however, it refers to a phenomenon which is currently recognised neither as a disease nor as a pathological condition. Backward positioning...
Tetralogy of Fallot - diagnosis and treatment
Falott's syndrome is classified as a congenital heart defect involving anatomical abnormalities of the heart. Falott's tetralogy is one of the most common cyanotic malformations in children.
Aortic stenosis: causes and symptoms of the most common valvular heart defect
Aortic stenosis is the most common valvular heart defect and is - along with hypertension and coronary artery disease - one of the most common heart conditions in general. The entity may be...
Phakomatoses: cutaneous-neural syndromes, part 2
Phacomatoses are a rare group of diseases that affect the nervous system and manifest as skin lesions. They are inherited diseases, so their basis is genetic, and they are associated with numerous...
Cri du chat - cat meow syndrome in children
Cri du chat syndrome, known as cat meow syndrome, is a genetic disease caused by a mutation in chromosome five. What are the characteristics of the disease and what is the prognosis of patients...
Charge syndrome - a rare genetic disease in children
Charge syndrome is categorised as a rare genetic disease that is caused by a mutation in the CDH7 gene. In Europe, an estimated one in a hundred thousand healthy babies is born with Charge syndrome.
Doctors alert: no amount of alcohol is advisable during pregnancy!
Washington 26 April 2019. - An international group of scientists has undertaken research related to the search for biological changes in the brain that drive Fetal Alcohol Spectrum Disorders (ALPSD)....
Keith syndrome - causes, symptoms, diagnosis, treatment
Keith's syndrome is a very rare disease that affects the cartilage and bone tissues. The disease initially develops gradually in its course, but the symptoms worsen over time. The disease is known in...
Mayer-Rokitansky-Küster-Hauser syndrome
Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a disease that denotes the congenital absence of the uterus and vagina in a woman, resulting in the inability to become pregnant and have...
Postural defects vs. speech defects
The human body is a system of interconnected systems. The inadequate functioning of one of these can have a significant impact on the development of defects and abnormalities in another area of the...
Among rare genetic diseases - Fabry disease and Fahr's disease
Genetic diseases are caused by mutations within single genes or even within entire chromosomes. Spontaneous mutations, which occur suddenly and unexpectedly, are often triggered by harmful...
It is not just genes that influence how we experience fragrances
Just as one person may find a particular perfume to smell simply insane, another may find its scent repellent. The reason for these differences is that different people may simply experience the same...
What is Jacobsen Syndrome?
Jacobsen syndrome is classed as an extremely rare genetic condition. The disease is extremely rare, affecting less than one child in one hundred and twenty thousand births. Jacobsen syndrome is...
What is achondroplasia?
Achondroplasia is classified as a genetic disease, occurring once in every 28,000 live births. The disease manifests itself in infancy, producing symptoms such as changes in the appearance of the...
Premature puberty of the mammary glands (thelarche praecox)
Parents often come to the paediatrician concerned about the enlargement of the mammary glands in girls of a few months or so. The condition is usually discovered accidentally, while nursing the baby....
Prenatal diagnosis - information for patients
Thanks to the widespread use of non-invasive methods for the diagnosis of fetal genetic defects, it is many times possible to avoid invasive tests, which carry a certain risk of pregnancy...
Prostate cancer - causes, symptoms, diagnosis, treatment
Prostate gland (prostate) - one of the parts of the male sexual system, located in the pelvis, below the bladder and directly adjacent to the rectum. This type of cancer is currently the second...
