Potocki-Lupski Syndrome Awareness Day Date in the current year: March 8, 2025

Potocki-Lupski syndrome (PTLS) is a genetic condition caused by an extra copy of a small part of chromosome 17 (microduplication), which affects development. It was first described as a case study in 1996. The first study of the syndrome was published four years later, and by 2007, enough patients had been collected to complete a comprehensive study of the condition and publish a detailed clinical description. The syndrome was named after two geneticists involved in the research, Drs. Lorraine Potocki and James R. Lupski of Baylor College of Medicine in Houston, Texas.

PTLS has a reciprocal condition, Smith-Magenis syndrome (SMS), in which the small portion of chromosome 17 duplicated in PTLS is completely missing (microdeletion). Both syndromes have similar symptoms, such as intellectual disability, delayed speech development and sleep problems, but PTLS is usually milder than SMS.

Potocki-Lupski syndrome is a rare disorder that is predicted to occur in 1 in 20,000 individuals; to date, over 1,000 patients diagnosed with PTLS have been described in the medical literature. The syndrome is commonly usually diagnosed using a technique called G-banding, although it has a high percentage of false negatives. More sophisticated cytogenetic techniques may be used to confirm the diagnosis.

Early symptoms of PTLS include feeding difficulties, low muscle tone and failure to thrive during infancy. Children with PTLS fail to meet motor and language developmental milestones and have intellectual disability and, in 80% of cases, autism spectrum disorder.

Other symptoms of PTLS include sleep apnea, congenital heart defects, cognitive impairment, learning disabilities, attention deficit disorder (ADD), obsessive-compulsive behaviors, misaligned teeth (malocclusion), hypersensitivity to light and/or sound, short stature, and others. Patients with PTLS also often have distinctive physical features, such as a wide bridge of the nose, a narrow/pointy chin, long fingers with slightly crooked little fingers, and excessive body hair.

There is no cure for PTLS; treatment relies on managing the symptoms. Physical, occupational and/or speech therapy may help children with PTLS overcome some developmental delays. Many individuals are able to achieve some level of independence. However, it is difficult to make a prognosis because each patient with PTLS is unique. Physical symptoms, such as sleep apnea or heart defects, can be treated with medication or surgery if necessary.

Potocki-Lupski Syndrome Awareness Day, sometimes referred to as World Potocki-Lupski Syndrome Awareness Day or International Potocki-Lupski Syndrome Awareness Day, was created to raise awareness of PTLS, advocate for research, and support families affected by PTLS.