Are you looking for additional resources regarding Koolen-de Vries Syndrome, health conditions, education, rare disorders, etc? Please visit the following resources for additional information. This page will be updated with new links and resources as we find more information which may be useful to our families.

Please contact us to suggest additional resources for inclusion.


  • The Center for Courageous Kids – non-profit, year-round, residential medical camp that serves children living with chronic illnesses and life-threatening conditions. They offer illness-specific summer sessions and family weekend retreats. Over 40,000 children and family members from 45 states and 10 foreign countries have attended. Located in south/central Kentucky. Attending camp is 100% free! Find out more on their website or social media pages (Facebook, Instagram and LinkedIn).

Koolen-de Vries Syndrome

  • NORD Rare Disease Database – Excellent summary of KdVS, written by Dr. Bert de Vries in 2022.
  • Dr. Koolen’s KdVS Website – Read more about Koolen-de Vries Syndrome, learn about the clinical survey (see GenIDA below) and more.
  • GenIDA – Register on the GenIDA website to record medical information about your KdVS family member. Families are requested to enter this information to help further characterize and define Koolen-de Vries Syndrome.
  • Unique Rare Chromosomes Organization – Offers information on rare syndromes including Koolen-de Vries Syndrome. Please visit their website and download the Koolen-de Vries Syndrome disorder guide under the 17th chromosome heading.
  • Online Mendelian Inheritance in Man (OMIM) – offers more information about KdVS.
  • Genetics Home Reference – Guide to understanding Genetic Conditions entry on KdVS.
  • Orphanet – Portal for rare diseases and orphan drugs entry on KdVS.

What to do once you have a diagnosis…

1. Visit the Human Disease Genes website for the most up-to-date disease management and surveillance strategies and recommendations.

2. After receiving a diagnosis of Koolen-de Vries Syndrome, it is advised to work with a primary care physician such as a Geneticist or Pediatrician to determine which follow up tests may be appropriate and to determine a plan of care.


  • Developmental evaluation
  • Feeding assessment
  • Hearing test
  • Vision test
  • Kidney ultrasound
  • Cardiologist
  • Neurologist
  • Dermatologist
  • Ophthalmologist
  • Orthopedist


  • Speech Therapy
  • Occupational Therapy
  • Physical Therapy


  • Early Intervention program (Birth to age 3)
  • Individual Family Service Plan (IFSP)
  • Individualized Education Plan (IEP) or Service Plan
  • 504 Plan

Health Conditions

  • Epilepsy Foundation
  • Epilepsy and Sleep – Learn more about the connection between epilepsy and sleep, the common sleep problems affecting people with epilepsy, and how to get better sleep and mitigate seizures.
  • Feeding Tube Awareness – extensive information regarding tube feeding (founded by a KdVS parent!)


Rare Conditions

  • Chromosome Disorder Outreach – Education, Advocacy, Information and Support for all those diagnosed with any rare chromosome disorder.
  • National Organization for Rare Diseases (NORD) – Provides advocacy, education and other services to improve the lives of all people affected by rare diseases.
  • Human Disease Genes – “An international library of websites for professional information about genes and copy number variances and their clinical consequences.”

Assistance Programs

  • CORE – Providing special support to Children of Restaurant Employees. Visit their website or Facebook page for more information or to request assistance.

KdVS Foundation brochure – 2023

Click to download.

KdVS Body Systems & Checklist – 2023

Click to download.

Speech, Language and KdVS – 2023

Miya St. John and Prof Angela Morgan, Murdoch Children’s Research Insitute

Click to download.

KdVS Genetics Fact Sheet – 2023

Click to download.