Koolen De Vries Syndrome Overview

Save information for later
Sign Up

Learn About Koolen De Vries Syndrome

What is the definition of Koolen De Vries Syndrome?
Koolen de Vries syndrome is a disorder characterized by developmental delay, mild to moderate intellectual disability, congenital malformations, and behavioral features. Other problems include weak muscle tone (hypotonia) in childhood, recurrent seizures (epilepsy), and distinctive facial features. Males with Koolen de Vries syndrome often have undescended testes (cryptorchidism). Other symptoms may include defects in the walls between the chambers of the heart (septal defects) or other heart defects, kidney problems, and skeletal anomalies such as foot deformities. It is caused by genetic changes in the KANSL1 gene, or by the loss of a small amount of genetic material in chromosome 17 that includes the KANSL1 gene (chromosome 17 q21.31 microdeletion). Inheritance is autosomal dominant.
What are the alternative names for Koolen De Vries Syndrome?
  • Koolen de Vries syndrome
  • 17q21.31 deletion syndrome
  • 17q21.31 microdeletion syndrome
  • Chromosome 17q21.31 microdeletion syndrome
  • KANSL1-Related Intellectual Disability Syndrome
  • Microdeletion 17q21.31 syndrome
  • Monosomy 17q21.31
Who are the top Koolen De Vries Syndrome Local Doctors?
Experienced in Koolen De Vries Syndrome
Lauren B. Copp, PA
Physician Assistant
Experienced in Koolen De Vries Syndrome
Lauren B. Copp, PA
Physician Assistant

Hattiesburg Clinic PA

4209 Lincoln Rd, 
Hattiesburg, MS 
 (19.7 mi)
601-264-6000
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Lauren Copp is a Physician Assistant in Hattiesburg, Mississippi. Copp and is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Koolen De Vries Syndrome, Plaque Psoriasis, and Discoid Lupus Erythematosus (DLE). Copp is currently accepting new patients.

Advanced in Koolen De Vries Syndrome
Dr. James S. Donald
Family Medicine
Advanced in Koolen De Vries Syndrome
Dr. James S. Donald
Family Medicine

Chatom Primary Care PC

14634 Saint Stephens Ave, 
Chatom, AL 
 (73.6 mi)
Languages Spoken:
English
See accepted insurances
Accepting New Patients

James Donald is a Family Medicine provider in Chatom, Alabama. Dr. Donald and is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Type 2 Diabetes (T2D), Lung Metastases, Familial Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Donald is currently accepting new patients.

 
 
 
 
Learn about our expert tiers
Learn More
Experienced in Koolen De Vries Syndrome
Dr. Meagan E. Carpenter
Internal Medicine
Experienced in Koolen De Vries Syndrome
Dr. Meagan E. Carpenter
Internal Medicine

Wayne General Hospital

951 Matthew Dr, 
Waynesboro, MS 
 (51.3 mi)
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Meagan Carpenter is an Internal Medicine provider in Waynesboro, Mississippi. Dr. Carpenter and is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. Her top areas of expertise are Folate Deficiency, Vitamin B12 Deficiency Anemia, Multiple Carboxylase Deficiency, and Subacute Combined Degeneration. Dr. Carpenter is currently accepting new patients.

View All Doctors
What are the latest Koolen De Vries Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center