Resistance( insensitivity) syndromes to thyroid hormones are quite rare, transmitted by an autosomal dominant type of inheritance. Normally, with an increase in the number of thyroid hormones in ...

Congenital aplasia of the uterus and vagina ( Rokitansky-Klostner syndrome) is a rare disease that develops in women with a normal set of chromosomes( karyotype 46, XX) even at an early stage...

Type I diabetes is a disease of an autoimmune nature( ie, it occurs as a result of a violation of the function of the human immune system), which can develop as a result of the effect of some ...

Hereditary microspherocytosis , known as the Minkowski-Schofar disease, is transmitted by an autosomal dominant type of inheritance. With this type of anemia, a change in shape and a shortening...

Hereditary dentocytosis is a disease that is transmitted by an autosomal dominant type of inheritance. This disease is associated with a defect in the structural proteins of the erythrocyte me...

Activity deficiency of glucose-6-phosphate dehydrogenase( G-6-PD) is the most common hereditary anomaly of erythrocytes, resulting in hemolytic crises( exacerbation due to intense destruction of ...

Thalassemia is a group of diseases with hereditary disruption of globin protein synthesis, which is part of hemoglobin. Globin consists of several chains of amino acids, namely from 2 a- and 2...

There are 4 genes that control the formation of α-chains of globin in the human body. In the complete absence of the α-chain, fetal hemoglobin is not synthesized in the fetus, hydrocephalus de...

This disease is the most common disorder of blood clotting, resulting from a deficiency of factor VIII coagulation. In total there are XV factors of blood coagulation. All of them are located ...

Rundu-Osler disease is the most common hereditary hemorrhagic affection of blood vessels with focal thinning of their walls and expansion of the lumen of microvessels, inadequate local clotting o...

About 10% of all eye diseases are diverse and numerous lesions of the eyelids. Many of these diseases cause severe disruption of their functions. The development of the eyelids begins at the e...

The dermoid of the century is a tumor of elastic consistency, round in shape. It is not fused to the skin, but is often connected with the periosteum. This tumor contains sebaceous and swea...

Dacryocystitis is an inflammation of the lacrimal sac, which is located in the upper part of the orbit. The cause of dacryocystitis in newborns is a variety of anomalies in the development of ...

The absence of the iris, the defect in the iris tissue, the ciliary body and the choroid of the eye, the presence of one or more holes in the iris, in addition to the pupil, the displacement o...

Hippel-Lindau disease is a retinal tumor, which is often combined with a cerebellum or spinal cord tumor. This syndrome is transmitted by an autosomal dominant type of inheritance. Angiomas( v...

Anomalies in the development of the optic nerve significantly reduce the visual function of the eye. They are found when examined by an ophthalmologist. These changes are stable and not subjec...

Congenital glaucoma is one of the most severe types of eye pathology in newborns, leading early to blindness. The disease is relatively rare, its frequency is 1 case per 10,000 newborns. Howev...

Cataract is a partial or complete clouding of the substance or capsules of the lens, which is accompanied by a decrease in visual acuity until its complete loss. The opacity of the lens is the...