Spectrum of genetic forms of obesity and related disorders: Prader-Willi-like syndromes (part 1)

Prader–Willi–like syndromes (PWLS) represent a heterogeneous group of disorders characterized by a set of key clinical features, including muscular hypotonia, obesity, psychomotor and speech developmental delay, and behavioral problems, in the absence of methylation abnormalities within the chromosomal region 15q11.2q13. The phenotypic manifestations of PWLS show substantial overlap with the classical Prader–Willi syndrome (PWS), a disorder belonging to the group of imprinting disorders. PWLS include certain chromosomal syndromes (deletions of 1p36, 2pter, 3p26.3, 6q, 10q26, 19p, subtelomeric deletion of 12q, paracentric inversion Xq26q28, Xq27–qter disomy, duplications of 6q, 15q, Xq21.1q21.31, Xq23q25), imprinting disorders (Angelman syndrome, Temple syndrome, pseudohypoparathyroidism types 1A and 1C, pseudopseudohypoparathyroidism, Schaaf–Yang syndrome), and monogenic syndromic forms of obesity (Fragile X syndrome, Bardet–Biedl syndrome, Alström syndrome, Cohen syndrome, Börjeson–Forssman–Lehmann syndrome, MYT1L-related syndrome, SIM1-associated PWS-like obesity, GNAI1-associated neurodevelopmental disorder). The combination of the genetic heterogeneity of PWLS and the absence of the specific genetic defect observed in PWS creates significant challenges for differential diagnosis in clinical practice. This literature review systematizes current research data aimed at refining the phenotypic characterization, management approaches, and treatment strategies for syndromes within the Prader–Willi–like spectrum.

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