medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2021.06.14-26medgen-1939Research ArticleНАУЧНЫЕ ОБЗОРЫREVIEWКлинико-генетические параллели классификации и диагностики синдрома Элерса-ДанлоClinical and genetic parallels of the classification and diagnosis of Ehlers-Danlos syndromeНадыршинаД. Д.NadyrshinaD. D.dinanad@mail.ruТюринА. В.TyrinA. V.noemail@neicon.ruХуснутдиноваЭ. К.KhusnutdinovaE. K.noemail@neicon.ruХусаиноваР. И.KhusainovaR. I.noemail@neicon.ruБашкирский государственный университетРоссияBaskir State UniversityRussian FederationФГБОУ ВО «Башкирский Государственный медицинский университет» МЗ РФРоссияBashkir State Medical University of the Ministry of Health of the Russian FederationRussian FederationБашкирский государственный университет; ФГБОУ ВО «Башкирский Государственный медицинский университет» МЗ РФ; ГБУЗ Республиканский Медико-генетический центрРоссияBaskir State University; Bashkir State Medical University of the Ministry of Health of the Russian Federation; Republican Medical Genetics CenterRussian FederationФГБОУ ВО «Башкирский Государственный медицинский университет» МЗ РФ; ГБУЗ Республиканский Медико-генетический центрРоссияBashkir State Medical University of the Ministry of Health of the Russian Federation; Republican Medical Genetics CenterRussian Federation2021281020212061426Copyright © Надыршина Д.Д., Тюрин А.В., Хуснутдинова Э.К., Хусаинова Р.И., 20212021Надыршина Д.Д., Тюрин А.В., Хуснутдинова Э.К., Хусаинова Р.И.Nadyrshina D.D., Tyrin A.V., Khusnutdinova E.K., Khusainova R.I.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/1939

Статья посвящена обсуждению подходов к классификации и обзору доступных литературных данных о клинической вариабельности и молекулярно-генетических основах патогенеза редкого наследственного заболевания - синдрома Элерса-Данло. Представленный обзор расширит представление о патогенезе и позволит оптимизировать диагностику данного синдрома, определить тактику лечения и медико-генетического консультирования отягощенных семей как клиническим генетикам, специалистам в области изучения орфанных заболеваний, так и врачам терапевтам, специалистам семейной медицины и общей врачебной практики.

The article is devoted to the discussion of approaches to the classification and review of the available literature data on clinical variability and the molecular genetic basis of the pathogenesis of a rare hereditary disease - Ehlers-Danlos syndrome. The presented review will expand the understanding of the pathogenesis and allow to optimize the diagnosis of this syndrome, to determine the tactics of treatment and medical and genetic counseling of burdened families, both to clinical geneticists, specialists in the study of orphan diseases, and to general practitioners, specialists in family medicine and general medical practice.

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The authors declare that there are no conflicts of interest present.