consists of 46 chromosomes
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
Unusual Diseases: Stone Man Syndrome
The stone man’s syndrome in medicine is called progressive ossifying fibrodysplasia, or Müncheimer’s disease. This is a genetic pathology that is caused by a mutation of the gene responsible for bone formation. Its essence lies in the fact that the patient ligaments and muscles turn into bones, as a result, a person ossifies or stiffens. Hence the name – stone man syndrome.
This disease is known since the end of the XVII century, then it was first described. The disease is extremely rare. Now, according to various sources, there are 600, 800 or 2500 patients in the world. 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