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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. 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 Marshall Syndrome
Family Medicine
Experienced in Marshall Syndrome
Family Medicine

Aurora Family Medicine

1565 Allouez Ave, 
Green Bay, WI 
Experience:
44+ years
Languages Spoken:
English

Philip Goolsby is a primary care provider, practicing in Family Medicine in Green Bay, Wisconsin. Dr. Goolsby has been practicing medicine for over 44 years and is rated as an Experienced provider by MediFind in the treatment of Marshall Syndrome. His top areas of expertise are Schnitzler Syndrome, Monoclonal Gammopathy of Undetermined Significance (MGUS), Movement Disorders, and Parkinson's Disease.

 
 
 
 
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David S. Stolp
Experienced in Marshall Syndrome
Family Medicine
Experienced in Marshall 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 Marshall Syndrome. His top areas of expertise are Cerebral Palsy, Nijmegen Breakage Syndrome, Ruvalcaba Syndrome, and Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant.

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