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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
Advanced in Van Maldergem Syndrome

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
Languages Spoken:
English

. 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.

Philip L. Goolsby
Experienced in Van Maldergem Syndrome
Family Medicine
Experienced in Van Maldergem Syndrome
Family Medicine

Aurora Family Medicine

1565 Allouez Ave, 
Green Bay, WI 
Languages Spoken:
English

Philip Goolsby is a primary care provider, practicing in Family Medicine in Green Bay, Wisconsin. Dr. Goolsby is rated as an Experienced provider by MediFind in the treatment of Van Maldergem Syndrome. His top areas of expertise are Monoclonal Gammopathy of Undetermined Significance (MGUS), Schnitzler Syndrome, Movement Disorders, and Parkinson's Disease.

 
 
 
 
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David S. Stolp
Experienced in Van Maldergem Syndrome
Family Medicine
Experienced in Van Maldergem Syndrome
Family Medicine

Aurora Family Medicine

2424 S 90th St, Ste 200, 
West Allis, WI 
Languages Spoken:
English

David Stolp is a primary care provider, practicing in Family Medicine in West Allis, Wisconsin. Dr. Stolp is rated as an Experienced provider by MediFind in the treatment of Van Maldergem Syndrome. His top areas of expertise are Cerebral Palsy, Floating-Harbor Syndrome, Cardiomyopathy Hypogonadism Metabolic Anomalies, and Ruvalcaba Syndrome.

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