hypoplastic kidney dysplasia

Hypoplastic Kidney Dysplasia

Hypoplastic kidney dysplasia is a genetically and phenotypically heterogeneous group of congenital conditions that are united by underdevelopment of the urinary system due to genetic or teratogenic factors. The symptoms of this condition are quite diverse and depend on the degree of dysplasia – usually there is a lag in growth, impaired kidney function, sometimes…

hypokalemic periodic paralysis

Hypokalemic Periodic Paralysis

Hypokalemic periodic paralysis is a group of genetically determined myoplegias characterized by paroxysmal muscle disorders accompanied by a decrease in potassium levels. Their symptoms are sudden attacks of muscle weakness up to almost complete paralysis, mainly the musculature of the extremities is affected, sometimes with the involvement of the respiratory muscles, which can pose a…

Abortion ban pushes women to self-harm

Abortion ban pushes women to self-harm

Scientists from the Australian University of Queensland have proved that more than 40% of pregnant women who sought help from counseling services were subjected to violence. And if women had barriers to abortions, this increased the risk of self-harm or self-harm. Even in Australia, there are still serious obstacles to abortion, despite the fact that…

geleophysic dysplasia

Geleophysic Dysplasia

Geleophysic dysplasia is a hereditary disease caused by a violation of cellular growth and development, as well as the functioning of some components of connective tissues. The symptoms of the disease are the characteristic appearance of the face (“happy”), low height, shortened limbs, hypertrophy of muscles, difficulty in movement in the joints. Diagnosis of heliophysical…

congenital familial osteopetrosis

Congenital Familial Osteopetrosis

Congenital familial osteopetrosis is a hereditary disease with different types of inheritance and clinical course, which is characterized by a violation of the processes of ossification of bones with their densification and a number of concomitant disorders. Symptoms of this condition are fragility of bone tissue (mild development of traumatic and pathological fractures), manifestations of…

congenital sensory neuropathy with anhidrosis

Congenital Sensory Neuropathy With Anhidrosis

Congenital sensory neuropathy with anhidrosis is an extremely rare hereditary disease characterized by disorders of peripheral innervation and sweating processes. One of the main symptoms of this condition is the complete absence of nociceptive sensitivity, increased body temperature due to impaired thermoregulation, attacks of sudden shortness of breath. Diagnosis of the disease is based on…

congenital pachionychia

Congenital Pachionychia

Congenital pachionychia is a heterogeneous group of genetic pathologies having the character of ecto– and mesodermal dysplasia with different types of inheritance. Symptoms of this disease are thickening and subsequent dystrophy of the nails on the hands and feet, keratodermia, especially on the feet, plantar pain, warty growths and peeling of the skin. Diagnosis of…

velo-cardio-facial syndrome

Velo-Cardio-Facial syndrome

Velo-cardio-facial syndrome is a congenital (sometimes hereditary) disease characterized by multiple malformations and a disorder of cognitive functions. Its main symptoms are defects of the hard palate (obvious and hidden crevices), cardiovascular disorders, mental retardation, characteristic facial features. Diagnosis is made on the basis of the present status of the patient (including during the examination…

epidermolysis bullosa

Epidermolysis Bullosa

Epidermolysis bullosa is a group of hereditary diseases characterized by mild skin vulnerability, hence the second name of these pathologies – “mechanobullous disease”. The main symptom is the development of bubbles with serous contents on the surface of the skin, after which long-lasting erosions occur in their place. Diagnosis of various types of epidermolysis bullosa…