Phelan-McDermid Syndrome (PMS), also known as 22q13.3 deletion syndrome, is a rare neurodevelopmental disorder.

Phelan-McDermid Syndrome is primarily caused by deletions on the terminal end of chromosome 22 or mutations in the SHANK3 gene. These genetic changes can occur sporadically or be inherited. The syndrome presents a broad spectrum of symptoms, including global developmental delay, intellectual disability, absent or delayed speech, hypotonia, and various autistic-like behaviors.

Key Characteristics

• Genetics: PMS is linked to the SHANK3 gene, which plays a crucial role in synapse formation and brain function. Deletions or mutations in this gene lead to many of the neurological and developmental symptoms associated with the syndrome.
• Neurological and Developmental Impact: Patients often have developmental delays, intellectual disabilities, and behavioral challenges like autism spectrum disorder (ASD). Seizures and sleep disorders are also common.
  

iNGENū’s team of researchers and clinicians is dedicated to advancing Phelan-McDermid Syndrome research. Through innovative trial designs and a patient-centered approach, we work to accelerate the development of new treatments that could offer improved options and outcomes for those affected by Phelan-McDermid Syndrome.