Potocki-Lupski SyndromeSymptoms, Doctors, Treatments, Advances & More
Potocki-Lupski Syndrome Overview
Learn About Potocki-Lupski Syndrome
Potocki-Lupski syndrome is caused by a duplication of a small piece of chromosome 17 in each cell. Major features of the condition include developmental delays, intellectual disabilities, sleep problems, and behavioral difficulties. However, the specific signs and symptoms of Potocki-Lupski syndrome can vary among affected individuals.
Potocki-Lupski syndrome is caused by a duplication of genetic material on the short (p) arm of chromosome 17 at 17p11.2. As a result, Potocki-Lupski syndrome is also known as 17p11.2 duplication syndrome. In about two-thirds of affected individuals, the duplicated segment includes approximately 3.7 million DNA building blocks (base pairs), also written as 3.7 megabases (Mb). In the remaining cases, the duplication is larger or smaller. All of the duplications known to cause Potocki-Lupski syndrome contain the RAI1 gene. Studies suggest that having an extra copy of the RAI1 gene is responsible for many of the characteristic features of the condition.
Potocki-Lupski syndrome affects an estimated 1 in 25,000 newborns worldwide. More than 1,000 cases have been described in the medical literature.
The inheritance pattern of Potocki-Lupski syndrome is considered to be autosomal dominant , which means one copy of the 17p11.2 duplication in each cell is sufficient to cause the disorder.
Texas Childrens Physician Group
Lorraine Potocki is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Houston, Texas. Dr. Potocki is rated as an Elite provider by MediFind in the treatment of Potocki-Lupski Syndrome. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Potocki-Lupski Syndrome, Smith-Magenis Syndrome, Hypotonia, and Trisomy 17 Mosaicism. Dr. Potocki is currently accepting new patients.
Sarah Elsea is a Medical Genetics provider practicing medicine in Houston, Texas. Dr. Elsea is rated as an Elite provider by MediFind in the treatment of Potocki-Lupski Syndrome. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Smith-Magenis Syndrome, Potocki-Lupski Syndrome, Hypotonia, and Zellweger Syndrome.
Laurie Seaver is a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. Dr. Seaver is rated as an Experienced provider by MediFind in the treatment of Potocki-Lupski Syndrome. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Hypotonia, 1p36 Deletion Syndrome, Smith-Magenis Syndrome, and Potocki-Lupski Syndrome. Dr. Seaver is currently accepting new patients.
Summary: Currently, there is no clinically available genetic-based treatment for RAI1 (Retinoic Acid-Induced 1) -related disorders other than symptomatic management and there are no established clinical or molecular biomarkers that could be used as measures for the efficacy of therapy in future treatment studies. Biomarkers are measures of what is happening inside the body, shown by the results of laborato...
Published Date: August 10, 2026
Published By: National Institutes of Health