Abstract The Italian Consensus Position Statement on Diagnosis, Treatment and Prevention
of Obesity in Children and Adolescents integrates and updates the previous guidelines to …

Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and
involves the co‐presentation of other characteristics, such as mental retardation, dysmorphic …

Obesity represents a major health burden to both developed and developing countries.
Furthermore, the incidence of obesity is increasing in children. Obesity contributes …

Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by
autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13 …

Ciliopathies comprise a group of complex disorders, with involvement of the majority of
organs and systems. In total,> 180 causal genes have been identified and, in addition to …

Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy,
sensorineural hearing loss, dilated cardiomyopathy and multi-organ fibrosis. Elucidating the …

Abstract Purpose of Review We provide a review of monogenic diabetes in young children
and adolescents with a focus on recognition, management, and pharmacological treatment …

Obesity is a common complex trait that elevates the risk for various diseases, including type
2 diabetes and cardiovascular disease. A combination of environmental and genetic factors …

Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have
various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial …

Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by
clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and …