Services & Specialties

Epigenetic Syndromes

Expert Care for Your Child’s Epigenetic Syndrome

A rare genetic diagnosis can bring many questions about your child’s health, development and future. Our team can help you understand what the diagnosis means and what comes next.

The Epigenetic Syndromes Clinic provides expert care for children with rare and complex genetic conditions, including Rubinstein-Taybi, Kabuki and CHARGE syndromes, Cornelia de Lange syndrome, VACTERL and other congenital epigenetic disorders. We can help confirm a diagnosis, explain genetic test results and provide expert guidance for managing your child’s condition.

We look at your child’s health and development as a whole to create a personalized care plan. We also connect your family with specialists, research opportunities, support and other helpful resources.

Epigenetic Syndrome Expertise, Testing and Team Care

Experts in Rare Syndromes

Our team has deep expertise in rare and complex genetic conditions, including longstanding expertise in Rubinstein-Taybi syndrome.

We also specialize in CHARGE syndrome and work closely with the CHARGE Center at Cincinnati Children’s, the first dedicated center of its kind in the nation.

Families from across the country and around the world come to Cincinnati Children’s for our expertise in these rare conditions.

Testing That Guides Care

An accurate diagnosis can provide important answers and help you understand what comes next for your child.

We offer genetic and episignature testing and interpret the results alongside your child’s symptoms and medical history. This comprehensive approach can help confirm a diagnosis and inform your child’s care plan.

What if my child already has a diagnosis?

Our experts can review your child’s diagnosis, medical history and current needs. A second opinion can provide additional clarity and help you make informed decisions about their care.