Phelan-McDermid syndrome
A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Phelan-McDermid syndrome can be caused by a deletion at chromosome 22q13 or by mutation in the SHANK3 gene.
What is Phelan-McDermid syndrome?
Phelan-McDermid syndrome is a medical condition. A condition is a disease, disorder, or abnormal state that affects the body or mind. This page provides educational information only and is not a diagnosis.
If you think you may have Phelan-McDermid syndrome, speak with a qualified healthcare provider for evaluation and guidance.
Symptoms that may be associated with Phelan-McDermid syndrome
When to seek medical care
Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.