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.

Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to a misshapen skull, widely spaced eyes, and a bulging forehead.

Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. The first (big) toes are short and wide, and they bend away from the other toes. Additionally, the bones of some toes may be fused together (syndactyly) or abnormally shaped. The hands are almost always normal.

Some individuals with Jackson-Weiss syndrome have hearing impairment. People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span.

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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?
Distinguished
Highly rated in
98
conditions
Vascular Surgery

The University Of Vermont Medical Center

Burlington, VT 

Julie Lahiri is a Vascular Surgeon in Burlington, Vermont. Dr. Lahiri has been practicing medicine for over 25 years and is rated as a Distinguished doctor by MediFind in the treatment of Jackson-Weiss Syndrome. She is also highly rated in 98 other conditions, according to our data. Her top areas of expertise are Campomelia Cumming Type, Oculofaciocardiodental Syndrome, Yunis-Varon Syndrome, and Early Infantile Epileptic Encephalopathy. She is board certified in Vascular Surgery and licensed to treat patients in Vermont. Dr. Lahiri is currently accepting new patients in some locations.

Distinguished
Highly rated in
6
conditions
Neurosurgery

Weill Cornell Medicine Physicians

New York, NY 

Caitlin Hoffman is a Neurosurgery doctor in New York, New York. Dr. Hoffman has been practicing medicine for over 15 years and is rated as a Distinguished doctor by MediFind in the treatment of Jackson-Weiss Syndrome. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Jackson-Weiss Syndrome, Acrocephalopolydactyly, Craniosynostosis, and Plagiocephaly. She is board certified in Neurosurgery and licensed to treat patients in New York. Dr. Hoffman is currently accepting new patients.

 
 
 
 
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Distinguished
Highly rated in
6
conditions
Plastic Surgery

NewYork-Presbyterian/Columbia University Irving Medical Center

New York, NY 

Thomas Imahiyerobo is a Plastic Surgeon in New York, New York. Dr. Imahiyerobo has been practicing medicine for over 14 years and is rated as a Distinguished doctor by MediFind in the treatment of Jackson-Weiss Syndrome. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are Jackson-Weiss Syndrome, Craniosynostosis, Lambdoid Synostosis, and Metopic Ridge. He is board certified in Plastic And Reconstructive Surgery and licensed to treat patients in New York. Dr. Imahiyerobo is currently accepting new patients.

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What are the Latest Advances for Jackson-Weiss Syndrome?
Surgical Management of Complex Syndromic Craniosynostosis: Experience With a Rare Genetic Variant.
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