Atlas of Rare Orphan Diseases

• Abel - A medical eponym correlated with the names of researchers in the field of clinical genetics and biochemistry, primarily used to identify the Abel syndrome (a rare metabolic storage or congenital malformation disorder). In pediatric semiology and neurodevelopment, the Abel symptomatic complex associates severe intellectual disability, characteristic facial dysmorphic features, skeletal anomalies, and profound neuro-muscular hypotonia, requiring specialist multidisciplinary monitoring.