Koolen De Vries Syndrome Symptoms, Doctors, Treatments, Advances & More

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

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Advanced in Koolen De Vries Syndrome

Dr. Andrew J. Hendershot

Ophthalmology

Advanced in Koolen De Vries Syndrome

Dr. Andrew J. Hendershot

Ophthalmology

Osu Eye Physicians And Surgeons, LLC

915 Olentangy River Rd, Fl 5,

Columbus, OH

614-293-8116

Languages Spoken:

English

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Accepting New Patients

Andrew Hendershot is an Ophthalmologist in Columbus, Ohio. Dr. Hendershot is rated as an Advanced provider by MediFind in the treatment of Koolen De Vries Syndrome. His top areas of expertise are Keratoconus, Corneal Dystrophy and Perceptive Deafness, Macular Corneal Dystrophy Type 1, Fuchs Dystrophy, and Corneal Transplant. Dr. Hendershot is currently accepting new patients.