Koolen De Vries Syndrome Overview

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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?
Elite in Koolen De Vries Syndrome
David A. Koolen
Elite in Koolen De Vries Syndrome
David A. Koolen
Nijmegen, GE, NL 

David Koolen practices in Nijmegen, Netherlands. Mr. Koolen and is rated as an Elite expert by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Koolen De Vries Syndrome, Hypotonia, Floating-Harbor Syndrome, and West Syndrome.

Distinguished in Koolen De Vries Syndrome
Dr. Alessandro Iannaccone
Ophthalmology
Distinguished in Koolen De Vries Syndrome
Dr. Alessandro Iannaccone
Ophthalmology

University Of North Carolina At Chapel Hill

2226 Nelson Hwy, Suite 200, 
Chapel Hill, NC 
984-974-2020
Languages Spoken:
English
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Accepting New Patients

Alessandro Iannaccone is an Ophthalmologist in Chapel Hill, North Carolina. Dr. Iannaccone and is rated as a Distinguished provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Retinopathy Pigmentary Mental Retardation, Retinitis Pigmentosa, X-Linked Retinitis Pigmentosa (XLRP), and Usher Syndrome Type 2A. Dr. Iannaccone is currently accepting new patients.

 
 
 
 
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Cheng Her
Advanced in Koolen De Vries Syndrome
Dr. Cheng Her
Family Medicine
Advanced in Koolen De Vries Syndrome
Dr. Cheng Her
Family Medicine

Viaro Professional Arts Ltd Health Care

230 Pine St, 
La Crosse, WI 
608-668-2103
Languages Spoken:
English

Cheng Her is a Family Medicine provider in La Crosse, Wisconsin. Dr. Her and is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Hypomelanosis of Ito, Familial Hypertriglyceridemia, Jackson-Weiss Syndrome, and Koolen De Vries Syndrome.

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