Van Maldergem Syndrome
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Van Maldergem Syndrome Overview

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Learn About Van Maldergem Syndrome

What is the definition of Van Maldergem Syndrome?
Cerebro-facio-articular syndrome, which is also known as van Maldergem syndrome, is a condition that was first described in 1992. Key features of the condition include characteristic facial features, hand abnormalities, moderate to severe intellectual disability, poor muscle tone and joint hyperlaxity. Cerebro-facio-articular syndrome can be caused by changes in the DCHS1 or FAT4 genes and is inherited in an autosomal recessive manner.
What are the alternative names for Van Maldergem Syndrome?
  • Cerebro-facio-articular syndrome
  • Cerebro-facio-articular syndrome of Van Maldergem
  • Cerebrofacioarticular syndrome
  • Van Maldergem Wetzburger Verloes syndrome
  • Van Maldergem syndrome
Who are the top Van Maldergem Syndrome Local Doctors?
Advanced in Van Maldergem Syndrome
Dr. Alvaro H. Russi
Pediatrics
Advanced in Van Maldergem Syndrome
Dr. Alvaro H. Russi
Pediatrics

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
423-439-7320
Languages Spoken:
English
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. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Van Maldergem Syndrome. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.

Joseph J. Melvin
Experienced in Van Maldergem Syndrome
Dr. Joseph J. Melvin
Neurology
Experienced in Van Maldergem Syndrome
Dr. Joseph J. Melvin
Neurology

St. Christopher's Pediatric Associates Neurology - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
215-427-5470
Languages Spoken:
English
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. Dr. Melvin is rated as an Experienced provider by MediFind in the treatment of Van Maldergem Syndrome. His top areas of expertise are West Syndrome, Generalized Tonic-Clonic Seizure, Phenylketonuria (PKU), and Seizures.

 
 
 
 
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Jie Sun
Experienced in Van Maldergem Syndrome
Dr. Jie Sun
Pediatric Cardiology | Pediatrics
Experienced in Van Maldergem Syndrome
Dr. Jie Sun
Pediatric Cardiology | Pediatrics

St. Christopher's Pediatric Associates Cardiology - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
215-427-4820
Languages Spoken:
English
See accepted insurances

. Dr. Sun is rated as an Experienced provider by MediFind in the treatment of Van Maldergem Syndrome. Her top areas of expertise are Ventricular Septal Defects, Patent Ductus Arteriosus, Heart Murmurs, and Kawasaki Disease.

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