Koolen De Vries Syndrome
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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
Elite in Koolen De Vries Syndrome
Referral may be required
Nijmegen, GE, NL 

David Koolen practices practicing medicine in Nijmegen, Netherlands. Mr. Koolen is rated as an Elite expert by MediFind in the treatment of Koolen De Vries Syndrome. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Koolen De Vries Syndrome, Hypotonia, Epilepsy, and Short Philtrum.

Distinguished in Koolen De Vries Syndrome
Distinguished in Koolen De Vries Syndrome
Referral may be required

UNC Kittner Eye Center

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

Alessandro Iannaccone is an Ophthalmologist practicing medicine in Chapel Hill, North Carolina. Dr. Iannaccone is rated as a Distinguished provider by MediFind in the treatment of Koolen De Vries Syndrome. He is also highly rated in 29 other conditions, according to our data. His clinical expertise encompasses Retinitis Pigmentosa, Retinopathy Pigmentary Mental Retardation, Usher Syndrome Type 2A, and Late-Onset Retinal Degeneration. Dr. Iannaccone is currently accepting new patients.

 
 
 
 
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Experienced in Koolen De Vries Syndrome
Experienced in Koolen De Vries Syndrome
Referral may be required
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Indian River Health Services Inc

3555 10th Ct, Suite 200a, 
Vero Beach, FL 
772-563-4673
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Jonathan Braue is a Dermatologist practicing medicine in Vero Beach, Florida. Dr. Braue is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. He is also highly rated in 56 other conditions, according to our data. His clinical expertise encompasses Sunburn, Actinic Keratosis, Warts, and Seborrheic Keratosis. Dr. Braue is board certified in American Board Of Dermatology, 2019. Dr. Braue is currently accepting new patients.

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