Marshall Syndrome
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Learn About Marshall Syndrome

What is the definition of Marshall Syndrome?
Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Individuals who have Marshall syndrome can also have short stature. Marshall syndrome is caused by genetic changes in the COL11A1 gene and is inherited in an autosomal dominant fashion.
What are the alternative names for Marshall Syndrome?
  • Marshall syndrome
  • Deafness, myopia, cataract, saddle nose-Marshall type
Who are the top Marshall Syndrome Local Doctors?
Advanced in Marshall Syndrome
Advanced in Marshall 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 Marshall 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.

Experienced in Marshall Syndrome
Pediatric Nephrology
Experienced in Marshall Syndrome
Pediatric Nephrology

Atrium Health Levine Children's Nephrology

1001 Blythe Blvd., Suite C, 
Charlotte, NC 
Languages Spoken:
English
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 Marshall 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.

 
 
 
 
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Experienced in Marshall Syndrome
Advanced Heart Failure and Transplant Cardiology
Experienced in Marshall Syndrome
Advanced Heart Failure and Transplant Cardiology

Advocate Heart Institute

10837 S Cicero Ave, Ste 200, 
Oak Lawn, IL 
Languages Spoken:
English

Sunil Pauwaa is an Advanced Heart Failure and Transplant Cardiologist practicing medicine in Oak Lawn, Illinois. Dr. Pauwaa is rated as an Experienced provider by MediFind in the treatment of Marshall Syndrome. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Heart Failure, Pulmonary Hypertension, Pulmonary Veno-Occlusive Disease, Hypertensive Heart Disease, and Heart Transplant. Dr. Pauwaa is board certified in American Board Of Internal Medicine, Advanced Heart Failure And Transplant Cardiology.

What are the latest Marshall Syndrome Clinical Trials?
Development of an International Multicenter Registry of Patients With Monogenic and Polygenic Autoinflammatory Diseases Aimed at Clinical and Therapeutical Data Collection and Analysis

Summary: Autoinflammatory diseases (AID) are clinical entities characterized by recurrent inflammatory attacks in absence of infection, neoplasm or deregulation of the adaptive immune system. Among them, hereditary periodic syndromes, also known as monogenic AID, represent the prototype of this disease group, caused by mutations in genes involved in the regulation of innate immunity, inflammation and cell ...

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