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Unusual Diseases: Aarskog Syndrome
Aarskog syndrome, also known as Aaskorg – Scott syndrome, or faciesigiogenital dysplasia, is a very rare hereditary disease: it occurs in one person in a million. It manifests itself with pathological changes of the face, bones, genitals. Mainly men suffer from this disease, women are carriers of this pathology, and in them it can manifest only in a mild form. Continue reading
What is Klinefelter syndrome?
Klinefelter syndrome is a genetic pathology of men, based on endocrine disorders caused by additional female chromosomes in the set of sex chromosomes. This is a fairly common genetic disease. According to statistics, 0.2% of men are susceptible to it, and among endocrine disorders, Klinefelter syndrome ranks third (diabetes mellitus in the first place, and thyrotoxicosis in the second). But according to the same statistics, only 50% of cases are diagnosed. Continue reading
Gaucher disease
A rare hereditary disease, characterized by the fact that the patient in the cells of bones and internal organs accumulate fats of a certain type – glucocerebrosides. Gaucher disease is a rare disease, it occurs in one of 40–100 thousand. But in closed ethnic communities in which kinship marriages are common, there may be an order of magnitude more cases.
Gaucher disease Continue reading
