Learn About Jackson-Weiss Syndrome

What is the definition of Jackson-Weiss Syndrome?

Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

What are the causes of Jackson-Weiss Syndrome?

Mutations in the FGFR2 gene cause Jackson-Weiss syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene overstimulates signaling by the FGFR2 protein, which promotes the premature fusion of skull bones and affects the development of bones in the feet.

How prevalent is Jackson-Weiss Syndrome?

Jackson-Weiss syndrome is a rare genetic disorder; its incidence is unknown.

Is Jackson-Weiss Syndrome an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Who are the top Jackson-Weiss Syndrome Local Doctors?
Advanced in Jackson-Weiss Syndrome
Hematology Oncology | Hematology | Oncology
Advanced in Jackson-Weiss Syndrome
Hematology Oncology | Hematology | Oncology

Wk Hematology Oncology Associates

2600 Kings Hwy, Suite 340, 
Shreveport, LA 
Languages Spoken:
English
Accepting New Patients

Joyce Feagin is a Hematologist Oncology specialist and a Hematologist in Shreveport, Louisiana. Dr. Feagin is rated as an Advanced provider by MediFind in the treatment of Jackson-Weiss Syndrome. Her top areas of expertise are Inflammatory Breast Cancer, Colorectal Cancer, Familial Colorectal Cancer, and Paget Disease of the Breast. Dr. Feagin is currently accepting new patients.

Cheng Her
Experienced in Jackson-Weiss Syndrome
Family Medicine
Experienced in Jackson-Weiss Syndrome
Family Medicine

Viaro Professional Arts Ltd Health Care

230 Pine St, 
La Crosse, WI 
Languages Spoken:
English

Cheng Her is a primary care provider, practicing in Family Medicine in La Crosse, Wisconsin. Dr. Her is rated as an Experienced provider by MediFind in the treatment of Jackson-Weiss Syndrome. His top areas of expertise are Cerebral Palsy, Char Syndrome, Vici Syndrome, and Cohen Syndrome.

 
 
 
 
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Philip L. Goolsby
Experienced in Jackson-Weiss Syndrome
Family Medicine
Experienced in Jackson-Weiss 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 Jackson-Weiss 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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Who are the sources who wrote this article ?

Published Date: January 01, 2017
Published By: National Institutes of Health