Article

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

Aziza Abdullaivna ChutanovaDepartment of Medical Biology and Histology , Tashkent Medical Academy , Termez Branch , UzbekistanShahzoda Fayzulloevna MukhiddinovaFaculty of Pediatrics , Group 101 , Tashkent Medical Academy , Termez Branch , Uzbekistan

European International Journal of Multidisciplinary Research and Management Studiesjournal2025en

ABI

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.

Topics

Congenital Ear and Nasal Anomalies Genomic variations and chromosomal abnormalities

Identifiers

DOI: 10.55640/eijmrms-05-05-10

Citations and references

Cited by 03 references

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