Services & Specialties

Phelan-McDermid Syndrome Clinic

Caring for Children With Phelan-McDermid Syndrome, From Diagnosis Forward

Phelan-McDermid syndrome is a rare genetic condition caused by changes in the SHANK3 gene on chromosome 22q13. It affects brain development and can impact learning, communication, behavior and physical health. Symptoms can vary widely, which often leaves families feeling unsure about what to expect.

At the Phelan-McDermid Syndrome Clinic at Cincinnati Children’s, we help families understand this complex condition and what it may mean over time. Our team provides clear guidance, coordinated care, and ongoing support, so families never have to navigate Phelan-McDermid syndrome alone.

Specialized Care for Phelan-McDermid Syndrome

Condition-Focused Expertise

Our clinic is dedicated to caring for patients with a confirmed diagnosis of Phelan-McDermid syndrome. This focused experience helps our team recognize common challenges, monitor known medical risks and guide families through each stage of care.

Team-Based, Coordinated Care

Children with Phelan-McDermid syndrome often need support from multiple areas of medicine. Our team-based care includes specialists in neurology, psychiatry, gastroenterology and genetics who work together to create one unified care plan. Families receive coordinated guidance instead of separate, disconnected opinions.

Personalized Care Plans

No two children with Phelan-McDermid syndrome are the same. We tailor care plans to your child’s development, behavior and health needs. Our goal is to support daily function, encourage learning and help each child reach their full potential.

Ongoing Family Support

A rare diagnosis affects the whole family. We provide education, resources and genetic counseling to help families understand Phelan-McDermid syndrome and feel confident in care decisions. As your child grows, our team remains a trusted partner, adjusting care as needs change.