The association between deletions at 17q12 and development of renal cysts and diabetes was initially identified by Bingham et al. Later on, researchers like Mefford et al. recognized that larger, recurrent deletions at 17q12 were linked to broader multisystem clinical presentations (Mefford et al. 2007). Chromosome 17q12 deletion syndrome is a rare chromosomal disorder caused by the loss of a segment on the long arm of chromosome 17. It is characterized by combination of clinical features including cystic kidney disease, type 5 maturity-onset diabetes of the young (MODY5), and various neurodevelopmental abnormalities such as cognitive deficits, developmental delays (particularly in speech), autistic traits, and autism spectrum disorder. Additional findings reported in affected individuals include Müller’s aplasia in females, macrocephaly, and mild facial dysmorphism (such as a prominent forehead, deep-set eyes, and prominent cheeks), as well as episodes of transient hypercalcemia (Fig. 1). The estimated prevalence of this syndrome in the general population varies between 1 in 14.000 and 1 in 50.000 people. However, its true prevalence may be higher, as its wide range of clinical features can lead to underdiagnosis or misidentification (Machado et al. 2024; Orphanet 2025). Clinical manifestations of this syndrome may become apparent during the prenatal period, at birth, or in early infancy (GARD 2025).