Prader–Willi syndrome: clinical and genetic characteristics, diagnostic aspects, and therapeutic management
Antonova A.A., Yamanova G.A., Tarasochkina D.S., Chaprasova O.A.
Prader-Willi syndrome is a rare multisystem genetic disorder caused by the loss of paternal alleles at the 15q11.2–q13 locus. In infancy, the condition manifests with marked muscle hypotonia and feeding difficulties. At later stages of development, the clinical picture evolves, characterized by the onset of hyperphagia, psychomotor retardation, and progressive pathological obesity. The phenotypic profile of patients with Prader-Willi syndrome often includes craniofacial dysmorphism (narrow forehead, almond-shaped eyes), ophthalmological abnormalities (strabismus), and distal limb hypoplasia (small hands and feet). Hypothalamic dysfunction underlies the associated endocrine disorders, which include growth hormone deficiency, hypogonadism, central adrenal insufficiency, and hypothyroidism. Given the polymorphic clinical manifestations and the changing symptom profile across different developmental stages, early diagnosis and lifelong multimodal patient management are essential. The effectiveness of treatment and rehabilitation measures depends directly on the coordinated interaction of an interdisciplinary team of specialists: geneticists, endocrinologists, nutritionists, neurologists, pediatricians, psychiatrists, and rehabilitation specialists.
For citations: Antonova A.A., Yamanova G.A., Tarasochkina D.S., Chaprasova O.A. Prader–Willi syndrome: clinical and genetic characteristics, diagnostic aspects, and therapeutic management. Pharmateca. 2026;33(7):23-30. (In Russ.). DOI: https://dx.doi.org/10.18565/pharmateca.2026.7.23-30
Authors’ contribution: All authors made an equivalent contribution to the preparation of the publication.
Conflicts of interest: The authors confirm that they have no conflicts of interest to declare.
Funding: The study was conducted without any sponsorship.
Keywords
Prader-Willi syndrome
weight gain
diet
physical exercise
hormonal therapy
bariatric surgery
About the Authors
Alena A. Antonova, Cand. Sci. (Med.), Pediatrician, Department for the Organization of Medical Care for Minors in Educational Institutions, Children’s Polyclinic Department No. 5, City Polyclinic No. 3, Saint Petersburg, Russia; fduecn-2010@mail.ru; ORCID: https://orcid.org/0000-0003-2581-0408 (corresponding author)Galina A. Yamanova, Assistant Professor, Department of Normal Physiology, Astrakhan State Medical University, Astrakhan, Russia; galina_262@mail.ru,
ORCID: https://orcid.org/0000-0003-2362-8979
Daria S. Tarasochkina, Cand. Sci. (Med.), Associate Professor, Department of Normal Physiology, Astrakhan State Medical University, Astrakhan, Russia; mitrohina_dariya@mail.ru, ORCID: https://orcid.org/0000-0002-0804-8944
Olga A. Chaprasova, Senior Lecturer, Department of Normal Physiology, Astrakhan State Medical University, Astrakhan, Russia;
olga_chaprasova@mail.ru, ORCID: https://orcid.org/0000-0002-3116-3158
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