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

David A. Koolen

Elite in Koolen De Vries Syndrome

David A. Koolen

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.

Advanced in Koolen De Vries Syndrome

Dr. Alvaro H. Russi

Pediatrics

Advanced in Koolen De Vries Syndrome

Dr. Alvaro H. Russi

Pediatrics

Referral required

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd,

Johnson City, TN

423-439-7320

Languages Spoken:

English

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Offers Telehealth

Alvaro Russi is a Pediatrics provider practicing medicine in Johnson City, Tennessee. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

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Experienced in Koolen De Vries Syndrome

Dr. Donald J. Weaver

Pediatric Nephrology

Experienced in Koolen De Vries Syndrome

Dr. Donald J. Weaver

Pediatric Nephrology

Referral may be required

Atrium Health Levine Children's Nephrology

1001 Blythe Blvd., Suite C,

Charlotte, NC

704-381-8800

Languages Spoken:

English

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Accepting New Patients

Offers Telehealth

Donald Weaver is a Pediatric Nephrologist practicing medicine in Charlotte, North Carolina. Dr. Weaver is rated as an Experienced provider by MediFind in the treatment of Koolen De Vries Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Posterior Urethral Valves, Togaviridae Disease, Feingold Syndrome, and Congenital Nephrotic Syndrome. Dr. Weaver is board certified in American Board Of Pediatrics and American Board Of Pediatrics, Pediatric Nephrology. Dr. Weaver is currently accepting new patients.