[2] The deletion of this combination of genes results in several distinctive congenital features, occasional defects in the heart, kidneys, and urinary tract.
Other signs can include multiple mostly noncancerous benign bone tumours called osteochondromas (exostosis), developmental delay, vision disorders and craniofacial abnormalities.
[4] Potocki–Shaffer syndrome follows an autosomal dominant inheritance pattern, which means a deletion of genetic material from one copy of chromosome 11 is sufficient to cause the disorder.
More commonly, the condition results from a deletion that occurs during the formation of reproductive cells (eggs and sperm) in a parent or in early fetal development.
[citation needed] Some symptoms can be managed with drug therapy, surgery and rehabilitation, genetic counselling, and palliative care.