Children's Hospital Colorado opens first multidisciplinary clinic in U.S. for rare neurological disorder

The clinic specializes in the evaluation, diagnosis and care of patients living with Koolen-de Vries syndrome from infancy into young adulthood

AURORA, Colo., April 21, 2026 /PRNewswire/ -- Children's Hospital Colorado (Children's Colorado) announced the opening of its multidisciplinary Koolen-de Vries Syndrome Clinic, or "Kool Clinic" at the CU Anschutz Medical Campus in Aurora, Colo. This is the first pediatric multidisciplinary clinic in the country dedicated to the rare neurological disorder.

Koolen-de Vries Syndrome (KdVS) is a genetic condition caused by a deletion or duplication of chromosome 17 that occurs randomly during fetal development. The condition can lead to developmental delays, intellectual differences, low muscle tone, certain facial features and, in many cases, epilepsy. Due to the range of symptoms and medical complexity of the syndrome, the multidisciplinary approach of the Kool Clinic at Children's Colorado will offer comprehensive and integrated care at the same time.

"The launch of the Kool Clinic underscores Children's Colorado's ongoing dedication to advancing care for children with rare and complex conditions," said Megan Abbott, MD, neurologist, epileptologist and medical director of the Kool Clinic. "Our first-in-the-nation multidisciplinary model allows us to come together around each patient, deliver thoughtful, coordinated evaluations and support families with clearer direction, shared expertise and hope for the path ahead."

Children diagnosed with KdVS are often the first in their family to have the condition. It is estimated to occur in approximately one of every 30,000 live births. The syndrome diagnosis is considered relatively new, with the chromosome 17 deletion associated with KdVS identified in 2006 by independent research groups.

Generosity from our community drives life-saving innovations and discoveries for kids and ensures access to world-class pediatric expertise for families who need Children's Colorado. As a nonprofit health system, Children's Colorado relies on community support to care for hundreds of thousands of children every year, more than any other hospital in our seven-state region. The Kool Clinic is made possible thanks to community donations, including from the Koolen-de Vries Foundation.

"This is a huge step forward for our families — a true dream come true," said Ashley Point, president of the Koolen-de Vries Syndrome Foundation. We're thrilled to have all of our care in one place. With the guidance of these experts, families will gain the knowledge and confidence to provide the very best care for their loved one with KdVS."

The Kool Clinic opens its doors on April 22, 2026, and will initially focus on 16 patients with KdVS per year. Patients who receive care from the Kool Clinic will have access to expertise from multiple teams including neurology, genetics, rehabilitative medicine, physical, occupational and speech therapists and more to ensure holistic care.

To learn more about the clinic, please visit the Children's Colorado website or call 720-777-1326.

ABOUT CHILDREN'S HOSPITAL COLORADO
Children's Hospital Colorado is one of the nation's leading and most expansive nonprofit pediatric healthcare systems with a mission to improve the health of children through patient care, education, research and advocacy. Founded in 1908 and ranked among the best children's hospitals in the nation as recognized by U.S. News & World Report, Children's Colorado has established itself as a pioneer in the discovery of innovative and groundbreaking treatments that are shaping the future of pediatric healthcare worldwide. Children's Colorado offers a full spectrum of family-centered care at its urgent, emergency and specialty care locations throughout Colorado, including an academic medical center on the Anschutz Medical Campus in Aurora, hospitals in Colorado Springs, Highlands Ranch and Broomfield, and outreach clinics across the region. For more information, visit www.childrenscolorado.org or connect with us on Facebook, Instagram and YouTube.

Media Contact:
Courtney Binol, Children's Hospital Colorado
[email protected]
24/7 media line: 303-890-8314

SOURCE Children's Hospital Colorado