Albinism, Cri Du Chat Syndrome, And Reilly Syndrome (CIPA): Features, Genetics, Diagnosis, And Treatment

This article discusses three rare genetic diseases — albinism, Cri du Chat syndrome, and Reilly syndrome (congenital insensitivity to pain with anhidrosis). Their main clinical manifestations, diagnostic methods, features of genetic transmission, and modern approaches to treatment are described. An overview of the impact of these diseases on the quality of life of patients and the prospects for medical care is presented.