Articles
| Open Access |
https://doi.org/10.55640/eijmrms-05-05-10
Albinism, Cri Du Chat Syndrome, And Reilly Syndrome (CIPA): Features, Genetics, Diagnosis, And Treatment
Abstract
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.
Keywords
Albinism, Cri du Chat syndrome, Reilly syndrome
References
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Copyright (c) 2025 Aziza Abdullaivna Chutanova, Shahzoda Fayzulloevna Mukhiddinova
This work is licensed under a Creative Commons Attribution 4.0 International License.
Individual articles are published Open Access under the Creative Commons Licence: CC-BY 4.0.