Resources

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.

Koolen-de Vries Syndrome

  • 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…

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.

Medical

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

Therapy

  • Speech Therapy
  • Occupational Therapy
  • Physical Therapy

Educational

  • Individualized Education Plan (IEP) or Service Plan
  • 504 Plan

Health Conditions

Education

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.
  • Lift Me Up – Lift Me Up is a non-profit organization dedicated to providing ergonomic babywearing carriers to families who have children with special needs. Great for our low tone babies and young children!