Potocki-Lupski syndrome

Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication) of a small piece of chromosome 17 in each cell. The duplication occurs on the short (p) arm of the chromosome at a position designated p11.2. This condition is also known as 17p11.2 duplication syndrome.

Infants with Potocki-Lupski syndrome may have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia) that lead to feeding problems. Some affected babies do not grow and gain weight at the expected rate (described as failure to thrive), and children with this condition tend to be shorter and weigh less than their peers. About 40 percent of babies with Potocki-Lupski syndrome are born with a heart defect, which in some cases is life-threatening.

Babies and children with Potocki-Lupski syndrome have delayed development, including delayed speech and language skills and gross motor skills such sitting, standing, and walking. As they get older, affected individuals have intellectual disability, which is usually mild to moderate, and ongoing difficulties with speech. Potocki-Lupski syndrome is also associated with behavioral problems, which can include attention problems, hyperactivity, compulsive or impulsive behaviors, and anxiety. Many people with this condition have charateristics of autism spectrum disorder, which affects social interaction and communication.

Other signs and symptoms of Potocki-Lupski syndrome can include vision and hearing problems, dental and skeletal abnormalities, and abnormal kidney development and function. Many affected individuals have problems with sleep, including short pauses in breathing during sleep (sleep apnea) and trouble falling asleep and staying asleep. The condition can also have subtle differences in facial features, including outside corners of the eyes that point downward (down-slanting palpebral fissures), a triangular face with a broad forehead and a small jaw (micrognathia), and widely spaced eyes (hypertelorism).